BioVU Projects

Genetics and Social Factors of Pre-eclampsia

Genetics of Adiposity and Obesity

What is Adiposity

Adiposity is the term for excess body fat or obesity. Obesity is a chronic condition that comes from being overweight. Obesity can be caused by overeating or genetic factors that impact weight loss. Body fat is normal but too much body fat can lead to changes in how the body functions. Those who are obese may experience difficulty breathing or pain in their joints and back. Obesity can also increase the risk of having different health problems. These problems can include:

Heart disease
Diabetes
High blood pressure
High cholesterol

Obesity is often managed with a healthy diet and exercise plan. However, some people who are obese have a hard time maintaining a healthy routine overtime. Medicine for obesity is also limited.

How is the research done?

This research team wants to find new drug treatment and care plans for those experiencing obesity. The team will use BioVU resources to find genes related to obesity, mental health, and addiction. This may help find what's common among people with a certain trait like obesity and mental illnesses. They will look at gene activity and proteins to find new genes that may be related to obesity. The team is also studying how drugs affect genes connected to obesity. This could help figure out which genes might be good targets for new obesity drugs. The team will also study the connection between obese linked genes and the brain. They want to know if certain obese genes traits will affect the brain because the brain plays a big role in controlling weight.

What is the importance of this study?

This research may help learn more about the genes linked to obesity and new drug targets for this condition. This is important because drug treatment is limited for those experiencing obesity. This can help develop new drugs to help those with obesity have healthier lives.

Obsterics, Women and Health

Genetics and Social Factors of Pre-eclampsia

What is Preeclampsia?

Preeclampsia is a problem that can happen during pregnancy. It is marked by the onset of really high blood pressure. This can lead to organ damage or harm to the mother and fetus. Symptoms may include:

Swelling
Sudden and unexpected weight gain
Headaches
Vision changes
Upper abdominal pain

Which may increase their risk of developing preeclampsia. Additionally, social factors such as access to healthcare and stress may also play a role. Preeclampsia is managed with medication and close monitoring to prevent further problems. In serious cases, a hospital visit may be needed.

How is the research done?

Researchers are exploring causes of preeclampsia. They want to know if heart and metabolism problems can lead to preeclampsia or if they happen as a result of the condition. They will use BioVU resources to study the genes of those with preeclampsia. This can help point to factors that may be causing this condition. They will also look at how genes and family history might affect the risk of this condition. The team will explore preeclampsia risk very closely in African American women. They want to see if social bias for skin color differences could make a difference in risks or the care that is received. The research team is interested in learning more about preeclampsia and finding new therapies to help those with it.

What is the importance of this study?

Current strategies to prevent preeclampsia can be improved if more about this condition is studied. This research is important because it explores the genetic causes of preeclampsia. This can help create better ways to prevent and treat it.

Gene Regulation Impact on Diseases

Clinical Risk Prediction Models

Gene Regulation Impact on Diseases

What is Gene Regulation?

The body’s DNA is made of codes or genes that tell the body how to grow and work properly. Gene regulation is like a set of instructions for the DNA to know which genes to use and when to use them. Impairments in these instructions can lead to diseases. It is found that many diseases are caused by code imperfections in our DNA that don't affect genes directly. These areas of DNA outside of the gene are called non-coding. Non-coding DNA helps organize gene regulating instructions and make sure the genes are working properly. Non-coding DNA can have special parts and codes that can turn these instructions or genes on or off. There is not a lot of information about how these gene regulating areas of DNA work, so it's hard to figure out how they may be causing diseases.

How is the research done?

This study wants to look into the impact of non-coding DNA imperfections more. The team wants to find out which codes can make people more likely to get sick or have certain health issues. They will use BioVU resources to find people with impairments in their non-coding DNA that regulate genes. This will help the team understand how tiny differences in our DNA affect our traits and health. They are also interested in why some codes cause problems while others don't. This may help to see if they are more likely to have health issues.

What is the importance of this study?

This study will look into certain parts of genes to learn more about diseases and how to treat them. This research is important for learning more about gene regulation and how it can cause disease when it does not work as well as it should.

Genetics of Abdominal Aortic Aneurysm (AAA)

Clinical Risk Prediction Models

What are clinical risk prediction (CRP) models?

CRP models are tools clinicians use to predict what diseases people might get in the future. These tools use a person's medical history and health factors to figure out how likely they are to get sick.

How is the research done?

This study wants to see if adding genetic information can make predicting disease risk better. The study uses BioVU resources to study medical history and genetic data. They will study how including genetic information may make prediction tools better. The team is also interested in knowing when each prediction is most helpful since it may take time for a patient to get enough information to make the model work well. This may help the team understand how to make prediction tools better.

What is the importance of this study?

CRP models are important because they help doctors predict which diseases a person might get in the future. This allows doctors to provide better care and prevent diseases from developing. The team hopes to improve CRP tools to help catch diseases early when they are easier to treat.

Genetics of Atrioventricular nodal reentrant tachycardia (AVNRT)

Genetics of Abdominal Aortic Aneurysm (AAA)

What are Abdominal Aortic Aneurysms (AAA)?

AAA is when the wall of the aorta in the abdomen becomes weakened and bulges out like a balloon. This can be dangerous because the aorta carries alot of blood to the body. If the bulge pops, it can cause life-threatening bleeding. The exact cause of this condition is not known and sometimes symptoms do not show. But smoking, old age, and diabetes can be a risk. Symptoms of this condition includes:

Pain in the side of the belly
Back pain
Pulsing feeling near the belly button

This project wants to explore methods and tools that can find diseases such as AAA.

How is the research done?

The goal of the study is to create better tools to find diseases like AAA. This tool studies a person's medical history and genes to see if they might be more likely to get a disease. The team uses BioVU resources to look at the genetic information of those with AAA. This will help test if the tools developed are accurate. The team will look to see if these tools can predict risk for other medical conditions. The team will also study genes to find other medical conditions associated with AAA.

What is the importance of this study?

AAA is a disease that can be dangerous and sometimes people die from it. This study is important because it may help find more ways to find and treat AAA.

Genetic and diagnostic information to define disease risk with antinuclear antibodies

Genetics of Atrioventricular nodal reentrant tachycardia (AVNRT)

What is Atrioventricular nodal reentrant tachycardia (AVNRT)?

AVNRT is a condition that causes the heart to beat and function irregularly. This is called an arrhythmia. Natural electrical pulses make the heart beat and pump blood. Everyone has an electrical structure that sends signals quickly, called the AVN pathway. About 1 out of 5 people have another electrical pathway that send signals slowly. AVNRT occurs when the electrical pulses travel through the two pathways in a way that signals do not connect properly. Symptoms can include:

Fast heartbeat
Feeling dizzy
Heart flutter feeling
Shortness of breath
Neck or chest pain

Diagnosis of AVNRT can be very hard to detect. Special equipment that monitors the heart rhythm and electric pulses works the best for detection, called an EP study. It is not clear what causes AVNRT. Things like stress, smoking, and alcohol can make symptoms worse or more frequent. Treatments may include medications, low-energy shock to reset the rhythm (cardioinversion), procedures on specific areas of the heart (ablation), or surgery.

How is the research done?

Some families have been known to have AVNRT more than others. This research team believes that genes may be linked to the development of AVNRT. Using BioVU, they studied people with AVNRT detected by an EP study. They matched the people who have AVNRT with people who have a normal heart rhythm to get a clear understanding of the differences. Because there are only a few of these patients in BioVU, they focused on people of European ancestry with AVNRT, then will add other ancestries when there are enough to study. They looked at age, gender, race, AVNRT symptoms, and other medical history. They also compared the findings with other researchers around the world to see if they see similar results.

What is the importance of this study?

There isn’t a lot of information about why AVNRT happens to some people and not others. The research team wants to see if understanding genes linked to AVNRT will help. They hope it will help with better detection and treatments for people with AVNRT around the world.

Polygenic risk score creation and testing

Genetic and Diagnostic Information to Define Disease Risk with Antinuclear Antibodies

What is Systemic Lupus Erythematosus (SLE)?

SLE is a complex disease in which the immune system attacks its own tissues. This causes widespread inflammation and can damage the body There is no cure for SLE, but early medical treatment and lifestyle changes can help control it. Doctors can test for SLE by checking for a certain type of antibody in the blood called antinuclear antibodies (ANA). Some people who don't have SLE can also test positive for ANA. This can cause confusion for patients and doctors.

How was the study done?

The goal of this study is to see if a positive ANA test in people without autoimmune disease is related to certain conditions. In addition, the study will search for genetic factors that can help tell the difference between patients with SLE and those with a positive ANA without SLE. Our DNA (what makes up our genes) affects substances we produce in our bodies (like proteins). In this study, they will use the information from DNA to define which genes and proteins can help the diagnosis of SLE. They will also define who may develop severe disease. This could help with the development of new treatments for SLE.

What is the significance of this study?

Researchers will use information from DNA to define which proteins and genes are different for people with and without SLE. This could help doctors make an accurate and early diagnosis. Early diagnosis and treatment of SLE are important to improve the chances of getting better and to prevent organ damage. This research could also help find new ways to treat SLE by identifying genes and proteins that are involved in the disease.

June 2024

Genetics of diabetic ketoacidosis-associated cerebral edema (DKA-CE)

Polygenic Risk Score Creation and Testing

What are Polygenic Risk Scores(PRS)?

Researchers have studied genes and their effect on health for a long time. PRS models use this knowledge to figure out how genes can affect our health. PRS looks at many different genes at once. This can show how the genes work together to impact the presence of different traits or characteristics. Scientists want to see if these models can help predict early on what health conditions people might have in the future.

How is the research done?

This study believes that our traits can be affected by many genetic factors that work together. They are using BioVU resources to create PRS models that may predict certain traits. They want to study these models to see how useful they are. And if they help predict certain health problems in the future. The research team also wants to know if these models can show if genetic factors that impact our traits may tell us about other parts of our health.

What is the importance of this study?

Polygenic risk score models can be developed to study how genes affect our health. Studying genes this way can help predict our risk of getting certain diseases or showing certain traits. This may lead to creating more precise medical care and help to better understand how our genes impact our overall health.

June 2024

Genetics of sickle cell disease (SCD) and clonal hematopoiesis of indeterminate potential (CHIP)

Genetics of Diabetic Ketoacidosis-associated Cerebral Edema (DKA-CE)

What is Diabetic ketoacidosis-associated cerebral edema (DKA-CE)?

DKA-CE is a health problem that can happen when someone with DKA, diabetic ketoacidosis, gets really sick. This is mostly seen in children. It happens because the body can not use sugar for energy and uses fat instead. This can lead to cerebral edema(CE), also known as brain swelling. This could lead to problems with brain function and overall health. DKA-CE is a serious condition that can lead to coma or death. Symptoms of DKA-CE can include:

Confusion
Severe Headaches
Frequent vomiting

Doctors don't know why some people with DKA also get CE. They think it might be because of changes in the way salt and fluids move around in the body. Medications for brain swelling and blood flow are used for managing this condition. This project wants to find out if specific genes play a role in brain fluid movement. These genes may be related to those with DKA developing DKA-CE.

How is the research done?

The team is using BioVU resources to find those with DKA and at risk of DKA-CE. The team wants to confirm how this condition works in the body and learn more about the genetics behind it. They are testing if specific genes are associated with risk of developing DKA-CE. The team is also studying if there is a connection between drugs commonly used for managing diabetes and the development of this condition. The study believes that these specific drugs reduce the risk of DKA-CE. To test this they will look at medicines given before a DKA episode to find factors that may increase or decrease the risk. They will also look into if the drugs can be used for preventing this disease. If we learn more about how genes play a role in DKA-CE, we can look for new ways to use medicines we already have.

What is the importance of this study?

If we can learn more about what causes DKA-CE, we can identify people who might be at risk and find better ways to take care of them. This study is important because it's trying to find new information about this condition and new treatments that can help people with it.

Genetics of Pulmonary Arterial Hypertension (PAH)

What is Sickle Cell Disease (SCD) and Clonal Hematopoiesis of Indeterminate Potential (CHIP)?

Blood diseases are health problems that affect the way blood works. SCD and CHIP are two different types of blood diseases. SCD happens when blood cells are shaped like crescent moons instead of circles. This prevents proper oxygen flow and blood movement through the body. CHIP is a blood disease that affects the way blood cells grow and divide. The blood cells grow and behave differently than healthy blood cells. Those with CHIP may experience little to no symptoms. Symptoms of SCD can include:

Body pain
Feeling tired and weak
Skin and eyes turning yellow
Getting sick often

Both conditions can lead to health problems with the heart, lungs, and kidneys. These problems can get worse over time and can make someone very sick or even cause death. Symptoms can be managed with medication. Medical professionals can also help keep an eye on any serious health problems that might develop.

How is the research done?

The research team wants to see if those with SCD might be more likely to get CHIP. The team will use BioVU resources to study those with and without SCD. They will look for genes linked to developing SCD. They want to see if there are certain genes that cause people to have health complications with SCD. They will also look at those with and without SCD and CHIP. They want to see if there are any genetic changes linked to those with SCD developing CHIP. They hope this information will help better understand SCD and find ways to help people who are at high risk for developing serious health problems.

What is the importance of this study?

SCD and CHIP are blood conditions that can lead to additional health complications. This research can help learn more about these conditions and how they are developed. This research may also show if and why those with SCD are more likely to develop CHIP. This can be helpful for improving the lives of those with SCD and CHIP.

Genetics of insulin resistance in type 2 diabetes

Genetics of Pulmonary Arterial Hypertension (PAH)

What is Pulmonary Arterial Hypertension (PAH)

PAH is a type of high blood pressure disease that affects the blood vessels in your lungs. The blood vessels become narrow or blocked and this makes it harder for blood to flow through them. This makes the heart work harder to pump blood through your lungs. The extra effort can eventually cause the heart muscle to become weak and fail. People who smoke or are overweight may be at a higher risk of developing PAH. The symptoms of PAH can include:

Shortness of breath
Chest pain
Feeling tired or dizzy
Blue or gray skin color due to lack of oxygen

Medications can be provided to help manage PAH symptoms and slow down the progress of the disease. Exercise and eating a healthy diet is also used to help those with this condition.

How is the research done?

The research team wants to learn more about how this disease develops. They will use BioVU resources to find genes that can cause PAH. They will also look into medical history and symptoms of those with this condition. The team wants to find markers that specifically point to why the lungs and the heart react this way. The team will also study how those with PAH have been treated. They will look at genes to figure out how the body responds to common medication used to help PAH. They will also try to find genetic markers that can predict how a patient would respond to medications used for helping the lungs. The team hopes this information can help make better medicine for treating PAH.

What is the importance of the study?

PAH is not the most common disease. But it affects a lot of people and treatment for this condition could be improved. This research is important because it is trying to find the cause behind this condition. This can help make personalized treatment plans and help improve the lives of those with this condition.

Genetics of osteonecrosis of the jaw (ONJ)

Genetics of Insulin Resistance in Type 2 Diabetes

What is Type 2 Diabetes (T2D)?

T2D is a chronic condition that happens when you have high blood sugar levels. Healthy blood sugar (glucose) levels are 70 to 99 milligrams per deciliter (mg/dL). If you have undiagnosed Type 2 diabetes, your levels are 126 mg/dL or higher. T2D happens because your pancreas doesn’t make enough insulin, your body doesn’t use insulin, or both. This is not the same as Type 1 Diabetes (T1D). T1D happens when an autoimmune attack on your pancreas causes a total lack of insulin production. The main cause of T2D is insulin resistance (IR). IR happens when cells in your muscles, fat and liver don’t respond as they should to insulin. Insulin is a hormone your pancreas makes that’s essential for life and regulating blood sugar levels. If your body isn’t responding to insulin, your pancreas must make more insulin to try to overcome your increasing blood glucose levels. If your cells become too resistant to insulin, it leads to T2D.

How was the research done?

This study wants to investigate the relationship between genetic variations in insulin signaling pathway genes and risk T2D in African Americans. They will also investigate whether the association between these genes and T2D risk is connected to body mass index (BMI). Finally, they will confirm their findings in an independent dataset of T2D cases and controls from BioVU using targeted genotyping.

What is the significance of this study?

T2D is a major public health issue in the US, with African Americans at a higher risk. IR is a key factor in T2D development, and genetic factors play a role. This study will add knowledge and investigate the biological pathway of IR. This study can help prevent or treat IR and T2D.

Drug and Gene Interactions, Other

Genetics of Osteonecrosis of the jaw (ONJ)

What is Jaw Osteonecrosis (ONJ)?

ONJ is the death of bone cells in the jaw. This rare condition can happen when an area of the jaw bone is exposed or broken and blood is not able to get the area. The lack of blood supply can lead to the bones breaking, exposing through the jaw, or causing the jaw to collapse. The risk of getting ONJ is sometimes increased after having oral or jaw surgery or taking certain medications. The symptoms of ONJ can include

jaw pain or swelling
infection of the jaw
loose teeth
bleeding of the mouth and gums

The cause of ONJ is not fully understood. Some researchers believe that people who take certain medications, such as bisphosphonates (BPs), for bone problems and aggressive cancers are at a higher risk of developing ONJ.

How is the research done?

The research team wants to find ways to predict who might get ONJ. They specifically want to figure out if taking BPs is associated with developing ONJ. The team will use BioVU resources to look at the genes of those with ONJ. They will try to find traits or specific genetic markers that make someone more likely to get ONJ. They will also look for specific gene markers or patterns that may show how BPs induce ONJ. This can help show if BPs are safe and find treatment options that keep people healthy.

What is the importance of this study?

ONJ is a rare condition that scientists and doctors want to learn more about. Researchers want to learn more about the genetic connection between BPs and ONJ. This research may provide new methods of care for those with this condition. It can also find ways to improve drug treatment and prevent ONJ.

Genetics of Alzheimer’s Disease (AD)

Genetics of pulmonary hypertension in children with Down Syndrome

What is Alzheimer's Disease (AD)

Alzheimer's disease is a condition that causes brain cells to die and areas of the brain to shrink. This affects parts of the brain that control memory thinking and language. This disease usually worsens over time and can make it hard for people to do everyday things like talking, walking, or even eating. AD can develop due to old age, genetic, and lifestyle factors. Symptoms of Alzheimer's disease can include:

Forgetfulness
Confusion
Trouble with language
Changes in mood or behavior

There is currently no cure for AD. Medications and therapy are used to slow down the disease. It is important for people with AD to have regular check-ups with their healthcare provider.

How is the research done?

The study team wants to learn more about AD by finding traits associated with this disease. They will use BioVU resources to look at the genes of those with AD. The team will use this information to find genes that are linked to developing AD. They will also look for traits and patient medical history, like blood pressure, to find factors that may be related to having this disease. The team will also look into common changes in the brain that happen to those with AD, such as shrinking of the brain, to see why such clinical traits of AD happen. This can help us learn more about what causes AD.

What is the importance of this study?

AD is a very serious condition that gets worse over time. Scientists want to learn how the brain changes as we age. This research can help learn more about how AD is developed and what other problems can impact the health of the brain. Researchers hope to find new ways to prevent or treat Alzheimer's disease.

Genetics of cardiometabolic diseases and traits

Genetics of pulmonary hypertension in children with Down Syndrome

What is Down Syndrome (DS)?

DS is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of DS. Children and adults with DS can all be affected differently. But here are some common health concerns:

Heart defects
Vision and hearing impairment
Respiratory issues
Sleep disorders
Mental health issues
Early onset Alzheimer’s and dementia

What is pulmonary hypertension (PH)?

PH is a type of high blood pressure that affects the arteries in the lungs and the right side of the heart. PH symptoms include:

Shortness of breath
Blue or gray skin color
Chest pain.
Dizziness or fainting spells.
Fast pulse or pounding heartbeat.
Fatigue

In some people, PH slowly gets worse and can be life-threatening. There's no cure for PH. But treatments are available to help you feel better, live longer, and improve your quality of life.

How was the study done?

They want to test if DS patients with PH are more likely to have a certain genetic variant than those without PH. They will use DNA from children with DS in BioVU. They will check how often two particular genetic codes occur for people in each group. They will also see if these variants are related to health problems or death in DS patients with and without PH. They will use a special chip that can tell if there is one, two, or three copies of a certain genetic code on chromosome 21, which is the chromosome that has an extra copy in people with DS.

What is the importance of this study?

PH is a serious condition that can cause illness and death in people with DS and people without DS. Researchers know that infants and children with DS are at high risk for developing severe PH as they age, but they don't fully understand what causes it or what factors make it more likely to happen. This study can help add more information to researchers that can lead to a better understanding of the connection between PH and DS.

Genetics of diabetes treatment response

Genetics of Cardiometabolic diseases and traits

What are Cardiometabolic (CM) diseases?

CM is a term that refers to the study of how the heart and the process of how the body uses food for energy are related. Diseases of the heart and metabolism are often passed down in families. These diseases have complex causes that involve both genetic and non-genetic factors. These diseases can include:

Diabetes
Heart disease
Stroke
Hypertension

Most studies about the factors of these diseases are on people of European ancestry. They don't have a full understanding of how these diseases affect other backgrounds. This can make it harder to find ways to prevent or treat these diseases for everyone.

How was the research done?

Researchers want to study how CM diseases affect populations with diverse ancestries. They will look for genetic factors and variations that link to these conditions. They will try to find genetic variants that have effects on different diseases. They will create scores that include a person's ancestry and risk factors. These scores will help researchers predict and manage these diseases.

What is the importance of this study?

Researchers want to study the genes related to these CM diseases in different populations. This will allow them to make accurate predictions about who is at risk for these diseases. This will provide more information about how our genes and lifestyle work together to affect our health. This will help doctors diagnose and better treat patients of all different backgrounds.

Diabetes, Drug and Gene Interactions

What is Diabetes?

Diabetes is a condition that happens when your glucose blood sugar is too high. The body has a hard time responding or taking in glucose. This sugar builds up in the blood stream and can lead to health problems. The cause behind this condition varies but diet and genetics can increase risk. Symptoms of this condition can include:

Increased thirst
Frequent urination
Blurred vision
Numbness or tingling in hands or feet

Diabetes affects people of all ages and is a lifelong condition. It can be managed with medications and lifestyle changes. Even with medications people with diabetes may still have problems controlling their blood sugar. This might be because of things like not taking their medicine correctly, having side effects, or not being able to afford the medicine. This study wants to learn more about how the medicines used for those with diabetes affect the body based on a person's genetics.

How is the research done?

There are certain genes that help the body take in sugar after eating. This project wants to study the relationship between diabetes medication and those genes. This study believes that genes may explain why some respond better to diabetes medicines than others. They will look at how well certain medicines work and how our genes affect this. The team uses BioVU resources to find those with diabetes and who were prescribed certain medications. The team is studying how well those medicines work and what happens to people who take them for a long time. They also want to know if these medicines are safe for people with high blood pressure. The study team hopes this research can help doctors find better ways to treat people with diabetes.

What is the importance of this study?

This research wants to help those with diabetes. This study is important because it looks at genetic impact in treatment response. This can help create better medications and improve health outcomes.

Genetics of clonal hematopoiesis of indeterminate potential (CHIP)

Kidney disease links to clonal hematopoiesis of indeterminate potential (CHIP) genetics

Blood

Genetics of Clonal Hematopoiesis of Indeterminate Potential

What is Clonal hematopoiesis of indeterminate potential (CHIP)

CHIP is a condition that happens when a person gets older. It's when a small part of the DNA in their blood cells changes in a way that makes them grow faster than normal. This can make a person more likely to get blood cancer, heart problems, or even die.

How was the study done?

Scientists want to learn more about changes in DNA over time, called CH mutations, in people who have been to the hospital more than once. They have already studied a few people and found some changes, but now they want to study thousands more people to find more changes. They will use a special test to look at their DNA at two different times, at least one year apart, and look for changes in three ways: 1) to find the specific gene and mutation that caused the change 2) to see how fast the changes grew 3) to see if some changes grew while others shrank They also want to find out what things might make these changes in DNA grow faster or slower. They have already found some things that might be important, like certain genes or proteins, and will look for these things in people who have already been to the hospital and had their DNA tested. They will also look at other information like age and smoking to see if these things might also be important.

What is the importance of this study?

If researchers can figure out what makes the changes in DNA happen faster in people with CHIP, they might be able to find ways to slow them down. This could help prevent people from getting sick with things like blood cancer or heart problems. They might be able to do this by recommending changes to people's lifestyles or by giving them medicine. Understanding these things better could help keep people healthy as they get older.

Genetics of substance use disorder

Blood, Nephrology

What is Clonal Hematopoiesis of Indeterminate Potential (CHIP)?

CHIP is a disease that affects the way our blood cells grow and divide. This can happen when people get older. The blood cells grow and behave differently than healthy blood cells and this can lead to health problems. The cause of CHIP is not known and has little to no symptoms. But people with CHIP might have a higher chance of getting certain diseases, like blood cancers and kidney problems. There isn't a cure for CHIP, but doctors can help manage it by checking the number of blood cells and looking for signs of serious diseases. If they find any problems, they can treat them as soon as possible to help keep people healthy.

How is the research done?

The study team wants to explore why those who have CHIP develop more serious health problems. The team wants to specifically look for a link between CHIP and kidney diseases. The study team believes that people with CHIP might be more likely to have kidney problems. The team will use BioVU resources to study those with CHIP and a kidney disorder. They will look for large amounts of abnormal blood cells or changes. This may help the team find if CHIP’s clinical features lead to kidney diseases or problems. Lastly, the team will study if genes play a role in how much CHIP affects the kidney. They believe different genes may change the severity in the health problems that result from CHIP. The team hopes to figure out if these health problems are connected and find new ways to help people manage the complications of CHIP.

What is the importance of this study?

CHIP is a serious condition that can lead to kidney complications or more. This study can help provide more information about CHIP and diseases that result from it. Additionally, this could be impactful for helping learn more about how kidney diseases develop. This can help treat problems quicker and improve treatment plans.

Genetics of a peanut allergy

Genetics of substance use disorder

What is substance use disorder (SUD).

An SUD is a medical condition that is the inability to control the use of a particular substance (or substances) despite harmful consequences.

How was the research done?

The study aims to identify people with SUD and compare their genetic information to people without SUD. To do this, the researchers will analyze the DNA of people who have been diagnosed as having SUD. They will then compare this genetic information to people without SUD. Researchers hope to perform the largest genetic study of SUD to date, which could help them better understand the causes and potential treatments for this disorder.

What is the importance of this study?

Drug overdose is a significant problem in the United States, and substance use disorders have a strong genetic component. This study hopes to better understand the genetic factors that contribute to SUD, which could lead to improved treatments and interventions.

Genetics of LDL cholesterol

Allergy

Genetics of a Peanut Allergy

What is a Peanut Allergy?

Peanut allergy is one of the most common causes of severe food allergy attacks. For some people with peanut allergy, even tiny amounts of peanuts can cause a serious reaction that can even be life-threatening. An allergic response to peanuts usually occurs within minutes after exposure. Peanut allergy signs and symptoms can include:

Skin reactions, such as hives, redness or swelling
Itching or tingling in or around the mouth and throat
Digestive problems, such as diarrhea, stomach cramps, nausea, or vomiting
Tightening of the throat
Shortness of breath or wheezing
Runny nose

Peanut allergy has been increasing in children. Even if you or your child has had only a mild allergic reaction to peanuts, it's important to talk to your doctor. There is still a risk of a more serious future reaction.

How was the research done?

Researchers want to study why some people are allergic to peanuts and others are not. First, they will look at the genes in the HLA region of the genome of people who are allergic and people who are not. This specific region is thought to be important in peanut allergy reactions. They hope to find genes that are more common in people who are allergic, so doctors can use this information to diagnose and prevent peanut allergies. Then, they will do a study to find any other genes that might cause peanut allergies. Finally, they will look at how these genes are turned on or off in people who are allergic and people who are not.

What is the significance of this study?

Researchers don't know much about why some kids are allergic to peanuts and others are not. With this study, they hope to find out if certain genes are more common in kids who are allergic to peanuts. This can help them understand why peanut allergies happen or if there are new genes linked to peanut allergies. Which could potentially help find new ways to prevent or treat them.

Genetics of venous thromboembolism (VTE) during chemotherapy

Genetics of LDL Cholesterol

What is LDL Cholesterol?

Most people use “LDL” and “LDL cholesterol” to mean the same thing. LDL cholesterol itself isn’t bad. That’s because cholesterol performs important functions in your body. But too much LDL cholesterol can cause issues. LDL cholesterol has a reputation for being the “bad cholesterol.” This is because excess LDL cholesterol contributes to plaque buildup in your arteries. This plaque buildup may lead to:

Coronary artery disease (CAD)
Cerebrovascular disease
Peripheral artery disease (PAD)
Aortic aneurysm

There’s a lot you can do to lower your LDL cholesterol. For many people, starting with lifestyle changes can make a big difference. Here are some changes you can make:

Eat healthy foods
Avoid tobacco use
Exercise
Maintain a healthy weight
Lower your stress levels

How was the study done?

This study aims to identify genes that have variants that affect LDL cholesterol levels in patients. A risk score will be developed for identified genes, and a study will be conducted to find if the gene causes effects in different areas of the body. The study will also investigate if low LDL cholesterol has any clinical effects such as increased risk of diabetes, Alzheimer's disease, and hemorrhagic stroke.

What is the importance of this study?

The study aims to learn more about the genes that lower LDL cholesterol levels. By understanding how these genes work, we can better understand the potential risks and benefits they may have for our health. This information can help doctors and researchers develop new treatments and medications to improve our health.

Genetics of musical rhythm and children with specific language impairment

Genetics of venous thromboembolism (VTE) during chemotherapy

What is venous thromboembolism (VTE)?

A VTE is a blood clot that blocks the flow of blood through your veins. A VTE can be stuck in the deep veins of the legs or arms or travel through the veins to the lungs. Veins carry blood from the extremities of your body back to your heart. When a vein is blocked, blood pools behind the blockage. This causes inflammation, and cells ahead of the blockage can’t get the oxygen and nutrients they need. This can do serious damage to the veins, tissues, and organs that they feed. In some cases, such as when a VTE blocks blood flow to the lungs, it can be life-threatening. Some people are more likely to get VTE than others. Cancer patients have a 4-7 times higher risk of developing VTE.

How was the research done?

Researchers want to find specific genetic markers that can help predict which cancer patients are at risk of developing VTE during chemotherapy. Blood clots are a serious complication for cancer patients, and some cancer treatments increase the risk of developing them. They will study the genetics of cancer patients who have developed VTE during chemotherapy. Then they will find a subgroup of patients who would benefit from receiving treatment to prevent blood clots. As the treatment to prevent blood clots has some negative side effects, it is important that we identify the subgroup that would most benefit from the treatment to minimize side effects.

What is the significance of this study?

This study can provide more information to help researchers find a genetic signature. These markers can help doctors personalize treatments for individual patients and prevent complications. Which can lead to better outcomes for cancer patients.

Genetics of ancestry in hepatocellular carcinoma

Genetics of Musical Rhythm and Children with Specific Language Impairment

What is Specific Language Impairment (SLI)?

SLI is a condition that affects a child's ability to develop language skills. People with SLI may have difficulty communicating. It is also known as developmental language disorder or language delay. SLI is common and affects around 7 to 10 percent of children. Some of these children may also have other medical conditions or intellectual disabilities. SLI can last into adulthood if it is not treated. Scientists do not know what causes SLI, but they believe that genetics may play a role. People who have SLI are more likely to have family members who also have trouble with language. About 50 to 70 percent of children with SLI have at least one family member who has the same problem.

How was the research done?

This project includes three studies that look at how rhythm and language are linked. The first of the three studies had the help of BioVU. The other two studies did not use BioVU but complimented the first study. The first study aimed to investigate the genetic makeup of rhythm skills by introducing musical rhythm to adult participants. The first study focuses on the genetics of people who have a range of musical rhythm skills. The second study will see how infants react to different rhythm tests. Next, they will compare these results to their parents’ rhythm skills. They want to see if early childhood and family rhythm can affect children’s risk for SLI. The third study aims to test the impact of musical rhythm on language in children. The study will see if listening to music impacts grammatical tasks in children.

What is the importance of this study?

The studies will provide a better understanding of the genetics and neurology of rhythm. They will also help with new research on other communication disorders. The results of the studies could help predict the response to treatment. They can also explore the connections between rhythm biomarkers and brain function.

Genetics of postpartum hemorrhage

Genetics of Ancestry in Hepatocellular Carcinoma

What is Hepatocellular Carcinoma (HCC)?

Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer. HCC occurs most often in people with chronic liver diseases. This includes cirrhosis caused by hepatitis B or hepatitis C infection.

How was the research done?

Researchers plan to use results to help build new ideas and questions about genetic ancestries from many countries. As well as the genetic ancestry of certain patterns linked with common liver cancer genes. They will link this data with patient details from Vanderbilt's Cancer Registry. They want to understand the relationship between genetics and how liver cancer develops.

What is the importance of this study?

Researchers study genes and physical traits to understand the risk for liver cancer. This can help them predict how the disease might progress. They need data about the variation in certain genetic patterns linked to liver cancer in different groups of people. This will help make a model that can predict the risk of liver cancer.

Obsterics, Women and Health

Genetics of Postpartum Hemorrhage

What is Postpartum Hemorrhage?

Postpartum hemorrhage (PPH) is severe bleeding after giving birth. It's a serious and dangerous condition. PPH usually occurs within 24 hours of childbirth, but it can happen up to 12 weeks postpartum. When the bleeding is caught early and treated, it leads to more successful outcomes. PPH is when the total amount of blood loss after delivery is much more than the expected amount. With both a vaginal or a Cesarean section delivery, bleeding can be severe enough to cause symptoms, such as a significant change in heart rate or blood pressure.

How was the study done?

This study plans to use de-identified information from BioVU. Researchers want to compare women with PPH following vaginal or cesarean delivery with a control group of women who do not experience PPH. Researchers plan to identify possible genetic differences between these two groups.

What is the importance of this study?

PPH is a serious problem that affects a small percentage of pregnancies worldwide. It is the leading cause of pregnancy issues and death, causing 140,000 deaths globally every year. While doctors know some factors that increase the risk of PPH, they don't understand the underlying causes very well. Current treatments are not always successful, so more research is needed. This study aims to improve the ability to predict PPH after vaginal and cesarean deliveries by looking at how a person's genes may contribute to the risk.

Genetics of sleep apnea and the risk of developing dementia

Genetics of PUFA and its complex disease risk

Neurology

Genetics of Sleep Apnea and the Risk of Developing Dementia

What is sleep apnea?

Sleep apnea is a disorder that causes you to stop breathing while asleep. Your brain tries to protect you by waking you up enough to breathe, but this prevents restful, healthy sleep. Over time, this condition can cause serious complications. This condition is often very manageable, especially with close adherence to prescribed treatments.

What is dementia?

Dementia is the loss of thinking, remembering, and reasoning to an extent that it interferes with a person's daily life. Some people with dementia cannot control their emotions, and their personalities may change. Dementia severity can start small but can develop to the person needing help with basic tasks.

What is Apolipoprotein E (APOE)

Apolipoprotein E (APOE) is a type of protein that is made in both the liver and brain. It helps move cholesterol around in the body. It helps keep fats balanced in the body by moving them from one place to another and helps fix damage in the brain. APOE genes are the main genetic risk factors for Alzheimer's disease (AD) risk and dementia.

How was the research done?

Researchers will select patients using BioVU’s de-identified medical records who had a sleep study done to check for sleep apnea. People who went for a regular check-up but didn't have any records of sleep-related issues will be included. After they select the two groups of patients, they will focus on those patients who have already had genetic testing APOE conducted through BioVU. They will look at the medical records to see if people developed dementia in the years after a sleep apnea diagnosis. They will also look at the person's APOE genes to see if they have any effect on dementia risk. The data will allow for the evaluation of sleep apnea presence/absence, APOE status, and dementia status.

What is the importance of this study?

It is important to identify whether sleep apnea might influence the risk of dementia based on APOE genotype. Also, this may help determine the way cells and molecules respond to APOE-related proteins to increase these risks. The goal of the project is to get preliminary data before building on the idea more with a large study.

Genetics of small cell lung cancer

Genetics of PUFA and its complex disease risk

What are PUFAs?

PUFAs, or polyunsaturated fatty acids, are a type of fat. They have two or more bonds between carbon atoms. You can find PUFAs in many foods like nuts, seeds, and certain cooking oils like canola, corn, and soybean oil. However, these fats can be unstable and may change easily, which can lead to damage in our body's cells.

How was the study done?

The team wants to study if there's a link between PUFAs and the risk of getting colorectal tumors (which are growths in the colon or rectum). They'll look at this in people who use a certain type of medicine (aspirin/NSAIDs) and in people who don't. They'll also create a way to find patients with colorectal cancer or adenomas and find the right people to compare them to. They want to see if there's a link between PUFAs and certain signs of inflammation in tumors. They'll look at this in people who use a certain type of medicine (aspirin/NSAIDs) and in people who don't. They want to see if PUFAs play a role in the levels of urinary PGE2 in the body. Too much PGE2 has shown links to increased tumor growth. They will study the effects of PUFAs (healthy fats found in certain foods) on the risk of getting colorectal tumors (growths in the colon or rectum). They will use information from three large studies to see how PUFAs affect people who take aspirin or other NSAIDs. They will also look at how PUFAs affect the markers of inflammation (a sign of disease) in tumors. Finally, they will analyze how PUFAs affect the level of PGE2 (a chemical in the body that causes inflammation) in the urine of people with colorectal tumors.

What is the significance of this study?

Prostaglandin E2, or PGE2, is a substance that our bodies make. It is often found in many types of cancer tumors. It also plays a part in problems during pregnancy. The team wants to learn more about how PUFAs and PGE2 can affect diseases like cancer, pregnancy health, and other conditions.

Genetics of small cell lung cancer

What is small cell lung cancer?

Small cell lung cancer is a rare fast-growing lung cancer. Small cell lung cancer can affect anyone, but it typically affects people who have a long history of smoking tobacco products. Small cell lung cancer represents about 15% of all lung cancer diagnoses. It’s less common than non-small cell lung cancer. Healthcare providers can cure some people if the disease is found early. For others, they can help them live longer.

What is DNA methylation?

Cancer risks can be linked to which genes are used and when. DNA methylation is one way genes are controlled without changing the DNA code directly. It is a way that genes are turned on and off naturally throughout life. Different things in the environment can change methylation patterns and result in genes getting used too much or too little. Many exposures to smoke may be linked to disease-causing changes to methylation patterns.

How was the research done?

The study team focuses on small cell lung cancer because of the unique sensitivity to smoking associated with this cancer. They want to test their ideas and gather more data related to methylation patterns and smoking. They are conducting a small BioVU study on methylation patterns of smokers who developed small cell lung cancer.

What is the significance of this study?

Methylation signatures can give researchers important information about a person's risk of getting diseases. By understanding this, they may be able to predict who is at risk of getting diseases like lung cancer.

Genetics of skin cancer

COVID-19 and respiratory distress syndrome

Cancer, Dermatology

Genetics of Skin Cancer

What is skin cancer?

Skin cancer is a disease where skin cells grow in a way they're not supposed to. It often happens on skin that gets a lot of sunlight. One way to lower your chances of getting skin cancer is to spend less time in the sun or to protect your skin from sun rays. Another way is to check your skin often for any changes that look strange. Finding skin cancer early is important because it can be treated more successfully. If you catch it at the start, you have a better chance of getting better.

How was the research done?

Researchers will check if certain factors can predict the chances of getting multiple skin cancers. They will look at data from two different sources and consider the following factors:

Which organ was transplanted.
Patient's age at the time of transplant.
Amount of time that's passed since the transplant.
Basic information about the patient.

They think these factors will help predict how many skin cancers a patient might develop. Researchers will then test if the way a patient's body processes certain medications can predict their chances of getting multiple skin cancers. They'll look at data from two large groups of people and focus on patients who have taken specific medications. They'll examine how their bodies handle these medications and see if that affects their chances of getting skin cancer. They think that patients whose bodies have a hard time processing these medications might develop more skin cancers. Create and test a dataset of skin cancer images to help predict outcomes. They'll create a system to gather and organize these images, using both experts and non-experts. They'll then use this collection of images to find features in the skin cancer that might show if the cancer could get worse.

What is the importance of this study?

Researchers want to be able to predict each person's chance of getting skin cancer based on their own unique situation. They want to create a model that will help us predict how a person's skin cancer might develop from the time they get their transplant. This would allow them to carry out practical tests to prevent skin cancer in high-risk patients.

Genetics of fibroproliferative diseases

BioVU and SD Biobanking

What is acute respiratory distress syndrome?

Acute respiratory distress syndrome (ARDS) is when fluids build up in small air sacs in your lungs. ARDS prevents your lungs from filling up with air and causes low oxygen levels in your blood. Healthcare providers diagnose a person as having mild, moderate, or severe ARDS. They determine that level by comparing the level of oxygen in your blood, with the amount you need to be a healthy level. ARDS prevents other organs from getting the oxygen they need to function. ARDS is dangerous and can lead to several serious and life-threatening problems. COVID-19 usually begins as an upper respiratory tract infection. In some patients, the virus enters the lower respiratory tract. This causes direct injury to the lungs by filling the air sacs with excess fluid. As decrease in oxygenated blood occurs, breathing becomes distressed, and oxygen in organs becomes too low. The lungs attempt to heal, but the result of this becomes ARDS.

How was the research done?

The study team will organize information from BioVU participants to see what can happen with COVID-19 infections. They will look at the genetic factors that make some people more likely to get ARDS from COVID-19. To capture a lot of different patients, they will compare BioVU genetic results with results from other studies.

What is the significance of this study?

This study can help find health problems in COVID-19 patients, like ARDS. By understanding these conditions, new treatments may be uncovered. This study can improve our understanding of COVID-19 and ARDS, which can lead to better outcomes for patients.

Genetics of cholesterol with aging-related diseases

Genetics of Fibroproliferative diseases

What are Fibroproliferative Diseases (FDs)?

FDs are a group of conditions that cause excessive scarring and remodeling in different parts of the body. They are very common and can be very serious, leading to many conditions every year. Some conditions may lead to death. Some of the most common FDs affect the following:

Heart
Lungs
Kidneys
Skin
Liver
Digestive system

These diseases can have a big impact on people's lives and are very expensive to treat.

How was the study done?

This study is about fibroproliferative disorders (FDs), which are diseases that affect tissues in the body. The researchers want to understand why some populations are more likely to get FDs than others. They will use genetic data from different populations to see if certain genetic traits are linked to FDs. They will also look at other diseases that might be related to FDs. By doing this, they hope to find new ways to treat and prevent FDs. The researchers will use different methods to study the genetics of FDs. They will look at different symptoms to see if they are linked to FDs. Finally, they will study how genetic traits affect how the body uses different genes in different tissues. The researchers hope to find new targets for treatment and prevention of FDs.

What is the importance of this study?

The research in this proposal aims to improve our understanding of FDs. including their causes and how they affect different populations around the world. By doing this, researchers may be able to develop better treatments and preventions for these diseases. The study may also help identify similarities and differences among different FDs, which could lead to new insights and treatments. This research could help improve the knowledge of FDs and improve the lives of those affected by these conditions.

Genetics of colorectal cancer

Genetics of cholesterol with aging-related diseases

What is cholesterol?

Cholesterol is a type of lipid that performs many essential jobs in your body. Lipids are substances that don’t dissolve in water, so they don’t break down in your blood. Instead, they travel through your blood to reach different parts of your body that need them. Your liver makes enough cholesterol to support your body’s needs. But you also get extra cholesterol from the foods you eat. Your body has a system for getting rid of excess cholesterol. But sometimes, that system doesn’t work as well as it should or becomes overloaded. As a result, you can have extra cholesterol circulating in your blood. And that’s when you might run into trouble.

How was the research done?

Researchers want to study if certain genes associated with aging are linked to various aging-related diseases. These diseases include Alzheimer's Disease, dementia, and osteoporosis. The study will also look at if the genetic risks vary depending on the participant's race. They also want to see if the type of cancer and the treatments received for cancer can speed up aging because of how a person's cholesterol genes can impact survivors.

What is the importance of this study?

Population aging is a global trend, and aging-related diseases are on the rise. More evidence is needed to find cholesterol metabolism genes that impact aging phenotypes. This study can help researchers find if there is a link between these genes and aging-related diseases.

Genetics of weight gain in people on autism spectrum disorder medicine

Genetics of colorectal cancer

What is colorectal cancer?

Colorectal cancer starts in your colon (large intestine), the long tube that helps carry digested food to your rectum and out of your body. Colon cancer develops from certain polyps or growths in the inner lining of your colon. Healthcare providers have screening tests that detect precancerous polyps before they can become cancerous tumors. Colon cancer that’s not detected or treated may spread to other areas of your body.

How was the research done?

Researchers want to study colorectal cancer in different groups of people to see if there are any genetic factors that make some people more likely to get it. They also want to see if things like being overweight, or smoking can make a difference. Finally, they want to develop ways to predict who is at risk for colorectal cancer based on their race and ethnicity.

What is the importance of this study?

This study will help allow researchers to identify genetic factors that may cause some people to be more likely to develop colorectal cancer than others. The importance of this is that it can allow doctors to identify and treat those at an earlier stage and can help with better outcomes.

Genetics of antipsychotic medications in metabolic syndrome

Pediatrics

Genetics of weight gain in people on autism spectrum disorder medicine

What is autism spectrum disorder?

Autism spectrum disorder (ASD) is a condition related to brain development that impacts how a person perceives and socializes with others. The disorder also includes limited and repetitive patterns of behavior. The term "spectrum" in ASD refers to the wide range of symptoms and severity. ASD begins in early childhood and can cause problems functioning in society, such as in school and at work. Often children show symptoms of autism within the first year. Different symptoms may come and go during the first few years of a child's development. While there is no cure for ASD, early treatment can make a big difference in the lives of many children. One treatment for ASD is the use of atypical antipsychotics (ATAP). A side effect of this is weight gain, but it is unclear why it makes some people gain weight.

How was the research done?

Researchers will create a computer program that predicts how a certain medication called ATAP might cause weight gain in people with ASD based on their electronic health records. They will also study how a person's genes might affect their risk of gaining weight while taking ATAP.

What is the importance of this study?

This study will allow researchers to look at the effects of this medication. Many people with ASD take ATAP and are at risk of gaining weight. This weight gain can lead to health problems like diabetes and heart disease. Researchers want to find ways to predict who might be at risk of gaining weight so they can help prevent it. This will improve the health of people with ASD who need to take ATAP.

Cardiac allograft vasculopathy links to clonal hematopoiesis genetics

Genetics of Antipsychotic medications in metabolic syndrome

What are psychiatric disorders and treatments?

Psychosis is a medical condition. It’s a collection of symptoms that show your brain isn’t processing certain kinds of information as it should. The symptoms all involve a disconnection from reality. The main symptoms are hallucinations and delusions. It can also involve disorganized thoughts and actions or dampen how you show emotions. Antipsychotic medications (APs) are drugs that treat psychosis-related conditions and symptoms. The medication can have side effects such as Metabolic Syndrome (Mets). Mets is a cluster of conditions that occur together. This increases your risk of heart disease, stroke, and type 2 diabetes. These conditions can include increased blood pressure, high blood sugar, and abnormal cholesterol.

How was the research done?

Researchers want to study the genes that might cause Mets in people who take APs. They will use information from two large databases of people who have taken these medications. Researchers will look for differences in genes between people who develop Mets and those who don't. They will use this information to create a score that can predict a person's risk of developing Mets while taking these medications.

What is the importance of this study?

Researchers are worried about a possible increase in Mets when more people take APs. They are studying ways to predict which patients are at risk for developing Mets. This research could help doctors give better care to people who take AP medications.

Genetics of diabetic retinopathy

Blood, Cardiovascular

Cardiac Allograft Vasculopathy links to Clonal Hematopoiesis Genetics

What is cardiac allograft vasculopathy?

Cardiac allograft vasculopathy (CAV) is a problem that can happen to people who have had a heart transplant. It happens because the body's immune system attacks the blood vessels that bring blood to the heart. This can make the heart not work well and can even cause death. People with CAV might feel tired or have trouble breathing, but they might not feel chest pain.

What is clonal hematopoiesis indeterminate potential?

Clonal hematopoiesis indeterminate potential (CHIP) is when a type of cell in your blood starts making cells with genetic changes. These changes can increase the risk of getting blood cancer or heart problems. However, most people with CHIP never have any symptoms or problems. It is usually found by chance when doctors test your blood for other reasons. Only a very small number of people with CHIP get blood cancer each year and the risk of heart problems. People with CHIP seem to also have more problems with CAV but it has not been studied much.

How was the research done?

Researchers want to see if there is a connection between CHIP and CAV after a heart transplant. They think that having CHIP might make someone more likely to develop CAV. They will look at the medical records of people who have CAV and people who don't after a heart transplant. The study team will check if patients have the CHIP condition by testing their DNA. They will also look at how severe the patients’ CAV is and see if there is a connection between the severity and CHIP. They think that if someone has a certain level of CHIP in their DNA, they might have a more severe case of CAV.

What is the significance of this study?

This study is trying to discover why some people who get a heart transplant might develop CAV. If researchers find out that CHIP makes it more likely to get CAV, they can do more tests to catch CAV earlier and treat it sooner. If they find out that CHIP is not related to CAV, they can use this information to look for other reasons why CAV happens. This study can help researchers find new ways to treat and monitor people who have had a heart transplant.

Genetics of the APOL1 marker in sudden cardiac death

Ophthalmology

Genetics of diabetic retinopathy

What is diabetic retinopathy?

Diabetic retinopathy (DR) is a diabetes complication that affects the eyes. It's caused by damage to the blood vessels of the light-sensitive tissue at the back of the eye. At first, DR might cause no symptoms or only mild vision problems. But it can lead to blindness. The condition can develop in anyone who has type 1 or type 2 diabetes. The longer you have diabetes and the less controlled your blood sugar is, the more likely you are to develop this eye complication.

How was the research done?

Researchers want to investigate whether certain genetic variations are associated with the development of DR. They are focusing on genes related to Interleukin-8 (IL-8) that can affect cell inflammation and blood vessel growth. Currently, treatment for DR involves targeting a protein called vascular endothelial growth factor (VEGF). It helps with swelling and blood flow in the eye. They are using BioVU to create groups of patients with diabetes. Some of the patients have DR and some do not. They will analyze the genes of these patients to see if certain markers are more common in those with DR.

What is the importance of this study?

The goal is to study the genetic makeup of patients with different degrees of diabetes and DR. This will help researchers gain a better understanding of the causes of DR. This may lead to new ideas about how DR develops and progresses. This research will provide new insights into the physical steps of DR and may lead to new treatments for the condition.

Cardiovascular, Heart Disease

Genetics of the APOL1 Marker in Sudden Cardiac Death

What is sudden cardiac death (SCD)?

SCD can happen when you don’t get immediate help for a cardiac arrest. Your heart stops beating because of an electrical issue, and you lose consciousness. Without CPR and other first aid, death can happen within minutes because the organs you rely on to keep you alive aren’t getting enough oxygen. SCD is the leading cause of natural death in the United States. It causes half of all heart disease deaths. SCD affects men twice as often as it does women. It’s rare in children, affecting only 1 to 2 per 100,000 children each year.

How was the research done?

There are different versions of a gene called APOL1 that can affect the risk of kidney and heart disease. This study will look at a specific version of APOL1 with a collection of markers called G3. This version is more common in people of European ancestry. It has not been studied as much as the G1 and G2 versions that are most often seen in African Americans. The study will look at patients who are receiving hemodialysis (a treatment for kidney disease) and see if having the G3 version of APOL1 is linked to a higher risk of dying from heart problems like SCD.

What is the significance of this study?

The study will use genetic testing to look at specific versions of a gene and their possible link to heart disease and SCD. This research could help us better understand the relationship between genetics, kidney disease, and heart health. This information could help doctors provide better care for those patients with this gene version.

Genetics of psychiatric disorders

Genetics of Helicobacter pylori (H. pylori)

Psychiatry

Genetics of Psychiatric Disorders

What is mental health?

Mental (behavioral) health includes a person’s psychological, emotional, and social well-being. It shapes the way you think, feel, behave, and interact with others. Some disorders can cause hyperactivity while others cause excessive sleeping. Some cause hyper-focus on things around you while others involve seeing or hearing things that aren't there. Your mental state also affects how you cope with stress. It’s a vital part of your life, from infancy through adulthood. The following disorders will be included in this study:

Schizophrenia/Schizoaffective Disorder
Bipolar Disorder
Anorexia Nervosa
Major Depressive Disorder
Autism Spectrum Disorder
Obsessive Compulsive Disorder
Tourette’s syndrome

How was the research done?

Psychiatric disorders affect almost 20% of adults. But researchers don't know much about their genetic causes. That's why the Psychiatric GWAS Consortium (PGC) was created, it's a group of over 300 researchers from 65 institutions. They are working together to study the genetics of common psychiatric disorders. Researchers want to help by studying DNA samples from BioVU for people with these disorders. They want to work with the PGC to improve our understanding of psychiatric disorders. They will use clinical notes, and medication information to see which patients do or don't have these disorders. Then they will compare the genetics of those with the disorders with those that are around the same age and don't have the conditions. Some genes are already known to play an important role in certain conditions. The study team will look at those genes and will look at many more markers that could be related. By working with the PGC, they can increase the size of their study and create valuable datasets.

What is the importance of this study?

Psychological disorders are becoming more common, and researchers want to understand what causes them. It's hard to diagnose these disorders because they have similar symptoms, and there are no reliable tests to identify them. This can lead to incorrect diagnoses and problems with treatment. It's hard to study the genetics of these disorders because they involve rare genetic variations and small sample sizes. They aim to partner with the PGC by including BioVU information in the large study. By studying the genetic differences of these disorders, they hope to improve early diagnosis and patient care.

Genetics of rare or undiagnosed conditions

Genetics of Helicobacter pylori (H. pylori)

What is Helicobacter pylori (H. pylori)?

H.Pylori is a type of bacteria that can live in the stomach. This can make some people sick. H. pylori can spread from one person to another through contaminated food or water. Poor hygiene and living conditions can increase the risk of being sick from H. pylori. Common symptoms of this sickness include:

Stomach pain
Bloating
Nausea
Vomiting
Loss of appetite
Weight loss

Some people may not have any symptoms at all. If left untreated, the infection can lead to more serious problems, like cancers or intense stomach problems.

How is the research done?

The study team will use BioVU resources to find if there is a genetic association that makes people more likely to have an infection. The team will examine those with a history of or who have been tested for H. pylori infection. They will study their genes to find any clues that may point to increased risks for this infection. They will see if the clues found explain why some have a more serious infection than others.

What is the importance of this study?

Scientists want to learn more about the causes and possible treatments for the condition. This research may improve understanding of the genetic role of H.pylori. This can help explain why some people are impacted by this illness and if genes make the sickness worse for some people.

Genetics of acute kidney injury

What are Undiagnosed Conditions?

Rare or undiagnosed conditions affect millions of people worldwide. A rare or undiagnosed disease is a condition with symptoms or signs not seen often. Medical professionals have limited information on these conditions due to their rarity. This can make it hard to figure out what is wrong and leads to delayed diagnosis. Researchers want to find new ways for those with genetic diseases to receive help faster.

How is the research done?

The team will use BioVU resources to study patients with and without rare conditions. This can show more about how patients are affected by genetic diseases. It may also show what factors make it harder for doctors to diagnose these conditions. The team is studying information from doctor visits to see how the diseases affect different people. This can explain why some people are not diagnosed right away. They will also look at information like age and symptoms to see if there are any patterns that make it harder to diagnose the disease. This can help add more information to medical records for finding rare diseases.

What is the importance of this study?

Researchers want to learn more about undiagnosed diseases and improve detecting them. This project may help improve methods for providing health results. Getting a quick and correct diagnosis can help people with these types of conditions.

February 2024

Nephrology

Genetics of Acute Kidney Injury

What is an acute kidney injury?

Acute kidney injury (AKI) is a status of sudden kidney damage or failure. It causes waste products to build up in your blood and can cause significant damage to the rest of your body. Usually, kidneys would remove urea and creatine waste when they are not injured. There are different levels of kidney injury, varying from mild to severe. In severe cases, your brain, heart, and lungs cannot work as well because of AKI, and you can die. Many conditions can cause AKI. Infections, poor blood flow, and certain medications can damage the kidneys. This can sometimes cause a sudden decline in kidney function. Patients who are in critical care or coming out of surgery are the most likely to get AKI. Hospitals often check everyone in these settings for AKI just in case.

How was the research done?

This study looks at patients who did and did not have AKI after surgery. They want to see if a person's genetics or medical history makes a difference in AKI risks. This may explain why some people get AKI while others don't after surgery.

What is the purpose of the study?

AKI is a serious condition that can happen to people after surgery. It can lead to death in some cases. There is no proven way to treat AKI once it happens, so it's important to try to prevent it. Age and certain conditions are known to increase the risk of AKI. However, more studies like this one are needed to know the role of genetics in AKI. By studying how genes might affect AKI, they could better predict who is at risk and find new ways to treat it.

Genetics of colorectal cancer and adenoma

Genetics of health conditions with the use of machine learning

Genetics of colorectal cancer and adenoma

Adenoma in colorectal cancer

An adenoma in colorectal cancer refers to a small, non-cancerous lump that forms in the lining of the colon or rectum. Yet, if left untreated, this lump could turn into colorectal cancer. This is why doctors often remove adenomas they find during check-ups. By removing these lumps early, doctors can prevent colorectal cancer from developing.

How was the research done?

Researchers plan to use existing data on studies that include people who have colorectal cancer (CRC) and those who don't. Researchers want to compare this data between different racial groups to find if there are specific genes that could increase the risk of CRC. Researchers will also use existing data to focus on colorectal adenoma (CRA). They will do the same comparison, but with people who have CRA and those who don't. In addition to BioVU samples and information these researchers will use tissue for RNA research. Researchers will conduct this portion of the study outside of BioVU by using information from a type of test called RNA-sequencing. Which will tell them about gene activity in tissue samples from the colon. With this information, researchers will create models that predict gene activity in different racial groups. Researchers will then use these models to find out if there are specific genes related to CRC and CRA that behave in different races.

What is the importance of this research?

By studying these genes, scientists can learn more about why some people get CRC and others don't. They can also find out how to better prevent or treat them. If a certain genetic risk is found to increase the chance of colorectal cancer, a new medicine could be developed to target this specific change. Understanding the genetics of colorectal cancer and adenoma can help us fight these diseases more.

Genetics of substance use disorders

Genetics of health conditions with the use of machine learning

What is machine learning?

Some patients have very clear symptoms that make it easy for them to be diagnosed. But in other cases, patients have more subtle hints and that can be challenging for doctors. Machine learning is used to pick up common findings that may get reported, but not always recognized as a sign that someone may have a condition. By using the computer to build up more traits that doctors may have missed in the past, it can help doctors make the connection better to symptoms that they may not realize could be related to the diagnosis.

How was the research done?

Scientists want to use medical records to find out which health conditions may be related to certain traits, like speech and language disorders. They will use this information to create a computer program that can predict if someone is at high or low risk for these traits. They will also use genetic testing to study how these traits may be related to specific genes. This research could help doctors give better care to people with these traits.

What is the importance of this study?

This study will help predict if someone has a specific trait based on their many health conditions. With the ability to predict possible health conditions, this can allow doctors to treat their patients early and provide better outcomes.

Genetics of intracranial tumors

Genetics of Substance Use Disorders

What is a Substance Use Disorder?

A substance use disorder (SUD) is a condition when someone struggles to stop using drugs or alcohol even though it causes bad things to happen to their health, relationships, and daily life. Genetic, personal, and environmental factors can make someone more likely to develop SUD. Some signs of SUD are:

Withdrawals and cravings
Low self-esteem or sense of self
Negative and irregular emotions
High stress
Emotional dependence
Difficulty in controlling or quitting its use

There are different ways to help people with SUD. Medicine and therapy is the most used treatment to help and care for those with this condition. It's important to find the right kind of help for each person's needs.

How is the research done?

The researchers want to find a better way to study addiction and substance use problems. They want to learn more about addiction to help treat it and find signs of this condition faster. The team uses BioVU’s resources to look at different medical information, like medical billing codes, to see how bad someone's addiction is. The team uses BioVU to find genetic differences between people with and without substance use disorders. This can help find the cause behind SUDs. The team is also looking for specific genetic differences that may be associated with other health outcomes to better understand the genetic factors that contribute to substance use disorders and related conditions. Researchers want to learn more about the genes that cause addiction and related problems.

What is the importance of this study?

This research is helpful for finding better ways to aid someone battling addiction. This would help scientists figure out how addiction works and how to stop it before it happens. Researchers want to ease any burden SUDs have on the population and help healthcare providers better understand how to care for those with this condition.

Genetics of sinonasal cancer

Genetics of Intracranial Tumors

What are Intracranial Tumors?

Intracranial tumors, or brain tumors, are cell growths that occur inside the brain. There are different types of brain tumors and they can vary by size and location. These growths can be hard to manage and can lead to problems with how the brain functions. Brain tumors can lead to the following symptoms:

Headaches that worsen over time
Difficulty speaking
Difficulty understanding language
Difficulty with balance or coordination
Changes in personality, mood, or behavior
Trouble processing thoughts

The causes of brain tumors are not entirely known. It is believed that poor health habits and genetics may be related. Treatment for this condition may change depending on the type of tumor. Chemotherapy or tumor removal surgery are common methods used to help those with this condition.

How is the research done?

This project wants to uncover genetic changes linked to brain tumor development. The use of BioVU resources allows the study team to find genetic markers related to certain brain tumors. They are studying certain genetic changes that occur before and after chemotherapy. This can show genetic clues linked to brain tumors and how brain tumors affect health. The team will use medical history and genetic markers to find out if brain tumors are linked to other health problems. The team will also study if brain tumors can affect a person's appearance or feelings. This may show the impact and genetic factors behind brain tumors. They hope to find ways to give better advice to patients and treat them in the best way possible.

What is the importance of this study?

Researchers want to learn more about how brain tumors are formed and how they affect people who have them. The study team hopes to help reduce brain tumor-related deaths and find new ways to treat the tumors in the future.

Genetics of metformin responses

Genetics of Sinonasal Cancer

What is Sinonasal Cancer

Sinonasal cancer or sinus cancer is tumor growth in the sinus cavity found behind the nose. This condition may be caused by heavy exposure to pollution or harsh chemicals. Tobacco use or smoke can be a risk as well. Sinus cancer can go unnoticed due to its cold-like symptoms. Symptoms of nasal and sinus cancer include

Congestion or runny nose
Headache
Facial pain
Trouble with vision
Nose bleeds

Treatment for sinus cancer may include a combination of surgery, chemotherapy, and radiation therapy. This project wants to learn more about what causes this condition and find additional treatment approaches.

How is the research done?

The study team uses BioVU resources to find genetic clues linked to sinus cancer. They want to know why some people get sinus cancer and others do not. The study team will study the genes of those with and without this disease. They will compare and look for genetic differences. This can help understand the development of this condition. This may also help the researchers predict who may be at risk of having sinus cancer.

What is the importance of this study?

Sinonasal cancer is not very common. Researchers want to learn more about this condition so that doctors can take better care of people who have it. This project is important because it explores genes linked to this cancer. This can help find ways to prevent and treat it.

Diabetes, Drug and Gene Interactions

Genetics of Metformin responses

What is Metformin

Metformin is a drug used for those with type 2 diabetes. Type 2 diabetes is a condition where the body does not turn food into energy as expected. This can lead to a buildup of sugar in the blood. Metformin helps by lowering blood sugar and turning food into energy. This medication works best with a healthy diet and exercise. Not everyone responds to Metformin the same way. Side effects of metformin include:

Stomach pain
Muscle pain
Tiredness
Changes in taste

How is the research done?

The goal of this study is to find out if there are certain genes that can help predict how well people with type 2 diabetes will respond to metformin. Researchers use BioVU resources to study the genes of those with type 2 diabetes and who are taking metformin. They hope to find clues that predict someone's response to the drug. These clues may show more about type 2 diabetes development. The researchers will also study medical records to see other health factors that show how the body may respond to metformin.

What is the importance of this study?

This research can help medical professionals find out how well someone may respond to Metformin. This can help improve treatment plans for those with diabetes.

Effects of sex and gender-related experiences across the genetics-linked clinical phenome

Effects of Sex and Gender-Related Experiences Across the Genetics-linked Clinical Phenome

What is the Clinical Phenome?

The clinical phenome is a list of physical traits that healthcare providers can measure and watch. These traits can include blood pressure or heart rate. Healthcare providers can learn more about someone's health by monitoring these traits. More can be learned about what impacts these traits. Scientists want to learn if being a certain sex or gender can affect clinical phenome traits and health outcomes.

How is the research done?

Researchers want to learn more about how being a man or woman can affect the development of an illness. The team uses BioVU resources to examine certain genes and markers that differ in all genders and sexes. The team will look for differences in disease severity and how and when the illnesses start. The study team will also consider how injury, or an unhealthy lifestyle can impact health differently for different sexes and genders.

What is the importance of this study?

The study team wants to understand how sex, gender, and genes affect disease risk. This is important because some diseases affect men and women differently. This study can help gender health gaps and enhance patient treatment.

Genetics of hyperthermia

Genetics of cardiometabolic conditions

Malignant Hyperthermia and Discovering New Genetic Differences

What is Malignant Hyperthermia?

Malignant hyperthermia (MH) is a reaction to specific anesthesia medicine used during surgical procedures. Those who have this condition experience high fevers and intense muscle spasms or tightness. Treatment for MH can include medications and ice packs to reduce fever and muscle breakdown. There is no cure for MH. This condition happens because of known and new genetic markers that make a person respond badly to certain anesthesia. These genetic markers can be passed down in families. Some hospitals check for a handful of genetic clues that can tell if a patient will have an allergic reaction to anesthesia. Those genetic clues are outdated and more genes are known to be linked to MH. Those genes are not yet categorized as either causing or not causing MH like the markers that have been used for a long time. The study goal is to find new clues and genetic markers that lead to this disease.

How is the research done?

The researchers want to find out if there are any genetic differences that are linked to having MH that are not currently being screened for. The study team will look at patients with and without MH after they have been exposed to specific anesthesia medicines. They will look for those who have had surgery but did not get sick after having the medications. The team wants to find specific genetic markers that could be linked to MH. This may help the team find specific markers that explain why some get sick and others do not.

What is the importance of this study?

The number of patients with this condition continues to grow and the care for this condition can be costly. Medical professionals are looking for more markers to detect risks for MH. This will help us learn more about those at risk for this condition. These markers could then be used to develop better screening methods and treatments for patients at risk for MH.

Genetics of drug response to clozapine

Genetics of Cardiometabolic Conditions

What is Cardiometabolic?

Cardiometabolic (CM) is a term that refers to the study of how the heart (cardio) and the process of how the body uses food for energy (metabolics) are related. CM conditions can be a cluster of disorders such as having diabetes and liver disease. These diseases can sometimes arise as a result of poor eating or exercising habits that damage the heart and the body. Risk factors for developing this type of health issue includes obesity, high blood pressure and high blood sugar levels. If these conditions are left unchecked, it could cause heart problems or strokes. Symptoms for having a CM condition or for being at risk for one include:

Chest pain
Tiredness
Trouble with vision or body movement
Numbness in hands or feet
Numbness on one side of the body

Learning about conditions that affect both the heart and body can teach us how diet changes and staying active can help keep us healthy. Treatment for such health issues includes change in diet or physical activity, or medication may be provided. It's important to manage these conditions to maintain good health.

How is the research done?

Researchers want to learn if a person’s genes and the way they live may make them more likely to get health issues like heart diseases or diabetes. This study will look for new genetic clues that may be linked to developing CM issues. The research team will study how diet, exercise, and sleep can affect blood pressure and weight. They will examine this information across different sexes and racial backgrounds. By studying these things, they hope to find new ways to predict who might be at risk for CM conditions and heart problems.

What is the importance of this study?

This study is important because it can provide more information about how our genes and lifestyle work together to affect our health. This study is also looking deeper into how it may affect people of different racial backgrounds. This can help understand how conditions like heart disease and diabetes can be linked to reduce the number of people who get these diseases.

Genetics of coronary heart disease

Genetics of Drug Response to Clozapine

What is Clozapine?

Clozapine is a medicine that helps people with mental health problems. It is usually given to people who experience hallucinations or self-harming thoughts. Clozapine can help those struggling mentally feel better and think more clearly. While clozapine can be helpful, it can also cause side effects. Some common side effects of clozapine include:

Drowsiness
Dizziness
Constipation
Weight gain
Increased risk of infections

In rare cases, clozapine can cause heart problems or seizures. Researchers want to study how the body responds to Clozapine and discover the best dosage and plan for people wanting to use Clozapine.

How is the research done?

The research team wants to study how the body processes clozapine by looking at certain genes, CYP1A2 and CYP3A. These genes help break down medicine. The team will study these genes to understand why Clozapine works better for some people and not all, and why some experience bad symptoms. They will look into those who have not gotten better with regular treatment also. They will also look for if any new bad symptoms happen to people who take it and if specific genes affect that.

What is the importance of this study?

Researchers want to learn more about Clozapine and how the body responds to it. Studying these specific genes may help find more clues about the best treatment for those with mental health conditions.

Socioeconomic determinants of health and epigenetic responses

Genetics of Coronary Heart Disease

What is coronary heart disease?

Coronary heart disease is a type of disease that affects your heart. It happens when your blood vessels that bring blood to your heart become narrow or blocked. This can cause chest pain or even a heart attack. It's important to take care of your heart by eating healthy foods, exercising, and going to the doctor for check-ups.

How was the study done?

Their goal is to create tools that can predict a person's risk for common diseases using information from their genes, medical history, and family health history. They will focus on diseases that are inherited, affect people of different ethnic backgrounds differently, and can be treated or prevented if caught early. They will use large studies of people's genes to develop these tools, and focus on conditions like heart disease, kidney disease, diabetes, uterine fibroids, and colorectal cancer. They will include several thousands of patients in the study, with a focus on including people from underrepresented communities. They will use the data to improve their tools and make them more effective. They will also engage with the community to make sure they are meeting their needs and concerns. Additionally, they will use a shared DNA map to study people who do not have family health history information available.

What is the importance of this study?

The importance of this study is to be able to create a tool that will allow doctors to use family history that can help them with diagnosing patients. They will also work to develop more accurate ways to predict risk based on genetics, as genetics can be affected by a person's ancestry and environment. They will use this information to create screening programs that can help people detect diseases early and manage their risk.

Genetics of hyperemesis gravidarum

Socioeconomic Determinants of Health and Epigenetic Responses

What are Socioeconomic Determinants of health (SDOH) and their potential epigenetic responses?

Scientists want to learn how going through hardships can affect health outcomes. SDOH are ways connections with people and access to resources can affect how healthy a person is. This can include where a person lives, income, and access to food or safety. Some people may experience more SDOH hardships than others. These hardships may affect epigenetic patterns and health outcomes. Epigenetic patterns are changes that occur in DNA that can result in some genes turning on and off. Sometimes the epigenetic patterns can increase disease risks. These types of DNA on/off switches may relate to SDOH experiences.

How is the research done?

This project explores if tough experiences can alter epigenetic patterns. The idea is that SDOH can impact overall health by controlling which genes are on or off. The research team will use BioVU resources to select those who have experienced hardships. They will study their DNA and past health problems. This may help find links between hardships and changes in epigenetic patterns that affect health. The study team is using technology to see how genes are turned on or off due to these experiences. This information will be compared to the information from people who haven't had as many tough times. They hope to find out how hard times can make someone more prone to illness and come up with new ways to help.

What is the importance of this study?

This project aims to understand how hard times can impact health. Researchers will study how it changes gene function. This research might spotlight health and resource gaps and help find ways to solve them.

Genetic risks of patients with double primary cancers

What is Hyperemesis Gravidarum (HG) During pregnancy some people may experience morning sickness or nausea or vomiting (NV). HG is a rare complication of pregnancy where more intense symptoms of nausea and vomiting are experienced. This can cause the mother and baby to take in less food and liquids, which can be harmful. HG can lead to symptoms of:

Fluid imbalances
Dehydration
Weight loss
Dark strong smelling urine
Vomiting blood
Stomach Pain
Fatigue

Medical attention may be needed for those with this condition. Treatments can include medication, IV fluids, or dietary changes. The cause of HG is not exactly known. Some think that hormones or how the body processes food may be a cause. Scientists are studying more about HG to figure out how to help women who have it.

How is the research done?

The study team has found genes connected to how we break down food and how our hormones work. They believe some of the genes found could also be connected to having HG. The study team will use BioVU resources to study hormones and biomarkers for clues about how our body works. They want to use these clues to see if they can understand why some women feel sick during pregnancy. The team is also studying if these clues are genetically linked to HG to determine the risk factors and causes of this condition. The team will then figure out how likely it is for someone to have these certain genes that might be linked to the biomarkers they tested. They will also use this tool to see if these genes are related to any other health conditions.

What is the importance of this study?

Many pregnant women experience nausea and vomiting, which is called NVP. Scientists want to learn more about why this happens so they can find better ways to help women who feel sick during pregnancy. They hope that by studying HG, they can find ways to predict who might get sick and how to treat it better. This would make life easier for pregnant women and help them stay healthy.

Genetic risks of patients with double primary cancers

What does it mean to have double primary cancer?

Double primary cancers mean that a person has two different types of cancer at the same time. For example, a person may have both breast cancer and lung cancer. This is different from cancer that spreads from one part of the body to another. Having double primary cancers is rare, and we want to find out why some people get both types of cancer at the same time. By understanding this, we can potentially better treat and prevent these types of cancers.

How was the research done?

The goal of this study is to find out if there are certain genes that may be linked to getting both breast and lung cancer. Researchers will use a special method to look at the DNA of people who have had both types of cancer. They will then compare their DNA to healthy people and people who only had one type of cancer. They will also look at the DNA of likely distant family members. Researchers will try to find out if there are certain genes that run in families and increase the risk of getting both cancers. Lastly, researchers will look for any other health problems that may be linked to these genes.

What is the significance of this study?

Breast cancer and lung cancer affect people of different races in different ways. They also have different types of mutations that cause them to grow. People who survive these cancers may have a higher risk of getting other types of cancer, and this risk varies among different racial groups. This suggests that there may be genetic factors involved in getting both breast and lung cancer at the same time, and this study aims to find out what those factors may be.

Genetics of scoliosis

Genetics of uterine atony

Musculoskeletal

Genetics of Scoliosis

What is Scoliosis?

Scoliosis is a medical condition where a person's spine has a sideways curve. Instead of being straight, the spine might look like an "S" or a "C". This curve can be small, large, or somewhere in between. Often, scoliosis starts to show up when kids are growing fast during their pre-teen years. Some people might have to wear a brace to help straighten their spine, and in severe cases, they might need surgery. But many people with scoliosis can lead normal, active lives.

How was the research done?

Researchers identified genes that might be linked to idiopathic scoliosis. Idiopathic scoliosis is when a person's spine curves for no known reason. They will use a method called exome sequencing to study the DNA of patients from the BioVU repository. They will compare the DNA of these patients to people who already have idiopathic scoliosis and people who do not. By doing this, they hope to find new genes that might be causing scoliosis. With the same DNA data, they will look for rare changes where there are too many or too few copies of a gene in patients with idiopathic scoliosis. By studying more DNA samples from BioVU, they hope to find more of these changes and other types of genetic variations linked to idiopathic scoliosis.

What is the significance of the research?

Studying scoliosis is very important for several reasons. First, it helps doctors and scientists understand why some people get scoliosis and others don't. Second, studying scoliosis can help create better treatments. If researchers are able to learn more about scoliosis, they might be able to come up with new treatments that are more effective or easier for patients.

Genetics of opioid dependence

Gynecology, Obsterics

Genetics of Uterine Atony

What is Uterine Atony?

Uterine atony is when a woman's uterus, which is the organ where a baby grows during pregnancy, doesn't tighten up as it should after giving birth. When the uterus tightens, it helps to stop the bleeding that naturally happens after a baby is born. If the uterus doesn't tighten, a woman can lose a lot of blood. This condition is one of the most common causes of heavy bleeding after childbirth, also known as postpartum hemorrhage.

How was the research done?

Researchers want to find out what medical signs can show if a woman might have heavy bleeding called postpartum hemorrhage (PPH) after giving birth, because the uterus doesn't tighten properly. They will look at all the research studies done on this topic to make a list of risk factors. They also want to find out if there are certain genes that make a woman more likely to have uterine atony. They will do a study using health records from patients who gave birth at Vanderbilt hospital and who have genetic data in the BioVU database. Lastly, they want to create a tool that doctors can use to figure out if a woman is at risk of heavy bleeding after birth because of uterine atony. This tool will use both the medical signs and the genetic factors they found. They will test this tool in a group of more than 50,000 people to see if it works well.

What is the significance of this research?

Around 4-6 % out of every 100 pregnant women will have heavy bleeding after giving birth. The most common reason for this is uterine atony. PPH is a serious problem. It can make the mother very sick and is the leading cause for maternal death after childbirth all around the world. This study will help researchers better understand which pregnant women might be at risk of heavy bleeding after giving birth because their uterus doesn't tighten properly. This will make it easier for doctors to know who might need extra care. It also sets the stage for future research and tests of new treatments.

Genetics of circulating hormone levels

Genetics of Opioid dependence

What is Opioid dependence?

Opioid dependence is a condition where a person becomes used to prescription medication in their system such as morphine, oxycodone, and fentanyl. Over time, the person needs more and more of the drug to feel the same effects. If they try to stop taking the drug, they can experience withdrawal symptoms. These symptoms can be very uncomfortable and even dangerous. Opioid dependence can lead to addiction and other health problems.

How was the research done?

This study aims to identify populations of individuals who have used opioids. The study will focus on individuals taking chronic opiates and individuals who have had short-term opiate use. The researchers will develop a risk score for opioid adverse events (OAEs), which include nausea, vomiting, respiratory arrest, and others. This will include diseases, traits, and medication features associated with opiate use. The study will identify predictors of long-term opioid use and OAEs. They will evaluate the risk scores from the OAEs to see if there are any connections. The study aims to improve our understanding of what contributes to opiate use and adverse events.

What is the importance of this study?

The misuse and abuse of opioids is a serious issue in America. Opioid use varies by geography, urban/rural differences, socioeconomics, sex, age, and more. This research can help identify actionable targets for prevention and intervention. Which will also improve our understanding of opioid dependence.

Genetics of hidradenitis suppurativa

Genetics of Circulating Hormone Levels

Circulating hormone levels can be abnormal during certain heart conditions, which include Torsades-de-Pointes, and Atrial Fibrillation.

What is Torsades-de-Pointes?

Torsades-de-Pointes is a type of abnormal heart rhythm. Your heart beats in a steady, regular rhythm. But when someone has Torsades-de-Pointes, their heart starts to beat in a chaotic, irregular way. This can cause a person to feel dizzy, have a rapid heartbeat, or even faint. It's important to treat this condition quickly because it can sometimes lead to more serious heart problems.

What is Atrial Fibrillation?

Atrial fibrillation, or AFib, is when your heart beats in an uneven and often very fast way. AFib can cause blood clots in your heart, which increases your chances of having a stroke, heart failure, and other heart problems. In AFib, the top parts of your heart, called the atria, beat in a disorganized and uneven way compared with the bottom parts of your heart, known as the ventricles. Some people with AFib might not feel any different, but others might feel like their heart is racing or pounding, feel short of breath, or feel dizzy. While AFib itself isn't usually life-threatening, it's a serious health issue that needs to be treated correctly to prevent other concerns.

How was the research done?

Researchers use data from BioVU to look at the levels of hormones in the body and their genetic links. Using this data, they aim to create genetic indicators of hormone levels. Researchers use these indicators to predict hormone levels in people. They aim to see if there is any link between these predicted hormone levels and Torsades-de-Pointes or Atrial Fibrillation.

What is the significance of this study?

Certain hormones in our body can influence the health of our heart and blood vessels, and lead to diseases. Female hormones can increase the chances of Torsades-de-Pointes in women. While male hormones can make men more prone to Atrial Fibrillation. This study could help researchers understand more about how hormones affect heart health. Which can potentially lead to new ways of treating or preventing these conditions.

Genetics of prostate cancer

Dermatology

Genetics of Hidradenitis Suppurativa

What is hidradenitis suppurativa?

Hidradenitis suppurativa (HS), also known as Acne Inversa, is a serious skin condition. It is affecting about 1 out of every 100 people, especially people with lighter skin. But it can affect anyone, including people with darker skin. The condition usually starts when a person is a teenager or young adult. It causes painful, deep bumps under the skin in areas where skin folds, like under the arms, groin, buttocks, and under the breasts. These bumps can turn into abscesses, which are swollen areas filled with pus. Over time, these abscesses can turn into tunnels under the skin that leak a bad-smelling fluid. When these areas heal, they can leave behind thick scars. In rare cases, these areas can even turn into a type of skin cancer called squamous cell carcinoma. Doctors don't fully understand what causes HS. Treatments include antibiotics for infections, surgery to remove the affected skin, and special medications that block inflammation. But even with treatment, HS can come back again and again over a person's lifetime.

How was the research done?

Researchers will see which patients have gamma-secretase mutations. Gamma-secretase is like a tiny pair of scissors inside our cells. It cuts certain proteins into smaller pieces, which is necessary for the normal functioning of our cells. Researchers are checking if people with HS in our study group have these mutations too. They do this by using a high-tech method called sequencing, which allows scientists to create a complete map of the genome. In the end, they want to create a complete map of the genetic material (genome) of some people in the group.

What is the importance of this study?

This study will allow researchers to expand research of HS into many ethnicities to see if these mutations are found in these diverse groups. This will make it easier to check samples in the future, and help spot bigger changes in the amount of copies of a gene. Finding more changes in genes and seeing how they affect things is an important part to understanding the basic science of HS risk.

Genetics of predicting drug responses

Genetics of Prostate Cancer

What is Prostate Cancer?

Prostate cancer is a kind of cancer that happens in the prostate gland in males. The prostate gland is a small, nut-shaped organ that helps make fluid for sperm. Some prostate cancers grow slowly and don't cause much harm, but others can spread quickly and be very dangerous. It's important to find and treat prostate cancer early before it can spread and become harder to treat. Prostate cancer tests often involve checking the prostate specific antigen levels (PSA) in a person's blood. PSA is a protein that can be made by both normal and cancerous cells in the prostate gland. But sometimes, the test results can be affected by things that aren't cancer. Researchers want to see if a person's genes can help us figure out if they are at high or low risk for prostate cancer, and if knowing their genes can help us understand PSA test results better. This will help us catch prostate cancer early and make sure people get the right treatment.

How was the research done?

Researchers will study how PSA levels relate to prostate cancer by looking at the genes of people with and without the disease. They will then create a score to predict how likely someone is to have benign or harmful changes in their PSA levels. They will also look at how well this score works compared to other medical information. They will see how these genes and scores affect treatment and features of prostate cancer. They will also test a tool to help find people with advanced prostate cancer and see how often certain genetic markers show up.

What is the importance of this study?

Prostate cancer is a serious health concern for men. It can cause a lot of problems and even death. It is important to find out who is more likely to get it so doctors can catch it early or prevent it.

Genetics of joint infections after hip or knee replacement

Genetics of Predicting Drug Responses

What is Pharmacogenomics?

Pharmacogenomics is an important example of the field of precision medicine, which aims to tailor medical treatment to each person or to a group of people. Pharmacogenomics looks at how your DNA affects the way you respond to drugs. In some cases, your DNA can affect whether you have a bad reaction to a drug or whether a drug helps you or has no effect. Pharmacogenomics can improve your health by helping you know ahead of time whether a drug is likely to benefit you and be safe for you to take.

How was the research done?

Researchers will study how different drugs are affected by a person's genes. They will look at information from people who have taken six different drugs:

Clopidogrel
Statins
Fentanyl
Methotrexate
ACE inhibitors
Antidepressants
Vancomycin

Their goal is to see how all the different genes in a person's body affect how they respond to these drugs. They want to create a tool that can predict how a person will react to these drugs based on their genes. Based on this tool, they want to find out why some people have a different reaction than expected.

Why is this study important?

The goal is to help patients get better by studying how their genes affect the way they respond to drugs. Researchers want to create models that use a patient's genes to predict how they will react to drugs like fentanyl. This will help doctors give patients the right amount of medicine, which can reduce side effects and make the medicine work better. Researchers think that by using a patient's genes to personalize drug therapy, they can improve patient outcomes and make treatments more effective.

Genetics of interstitial lung disease

Genetics of Joint Infections after Hip or Knee Replacement

What are Joint Infections?

Joint infections happen when germs or harmful bacteria get into the body and travel through the bloodstream to a joint. It can happen in any joint, like your knee, elbow, or shoulder. These infections can sometimes happen after someone has surgery to replace a joint. Joint infections are serious and can create more damage if not treated quickly. Conditions such as obesity and diabetes can increase risk for developing this illness also. Symptoms of joint infections include:

Joint pain
Joint swelling
Fever
Trouble moving infected joint(s)
Redness and swelling around joints

Joint infections can be treated with antibiotics and more surgery. It is important to treat early to avoid serious outcomes. Medical professionals are working on better methods to find those at risk for developing a joint infection and reduce infections after surgery.

How is the research done?

Researchers want to figure out who might get infections after hip or knee surgery and help those at risk before surgery. The study team uses BioVU resources to look at the genes of those who have had hip or knee replacements. The team is looking for certain genes that may make someone more likely to get an infection after their surgery. The team will also look at past health problems, like diabetes, to find additional possible connections linked to joint infections. They also plan to research the medical history of patients to find different ways to reduce infections.

What is the importance of this study?

Hip or knee joint infections remain a serious problem with little improvement in treatment. The research may help to prevent joint infections and keep people safe after surgery.

Genetics of polycystic ovary syndrome (PCOS)

Pediatrics

Genetics of interstitial lung disease

What is interstitial lung disease?

Interstitial (pronounced as in-tur-STISH-ul) lung disease (ILD) describes a large group of disorders. Most of these diseases cause scarring of lung tissue that can get worse over time. The scarring affects your ability to breathe and get enough oxygen into your bloodstream. ILD can be caused by long-term exposure to hazardous materials, such as asbestos. Some types of autoimmune diseases can also cause ILD. Symptoms often include:

Shortness of breath at rest or during exertive activities.
Dry, hacking cough.
Fatigue.
Unexplained weight loss.
Muscle and joint pain.

There is no cure for ILD. Current treatments aim to slow the progression of the disease, relieve symptoms, and improve quality of life.

How was the research done?

Researchers will set up a case-control study. The cases will include children and adults that have ILD. The controls will include adults over the age of 50 without ILD. They will look for variants in a special set of genes related to mitochondria. The mitochondria are the site of the cell’s energy production. The way these genes work may have ties to ILD. They will test the idea that abnormal mitochondrial genes and function are connected to the injury, poor healing, and scarring seen in ILD.

What is the significance of this study?

This study will allow researchers to identify if mitochondrial functions are linked to ILD. These findings could develop ways to prevent the disease and better treatments for spotting it early.

Genetics of Polycystic Ovary Syndrome (PCOS)

What is Polycystic Ovary Syndrome (PCOS)?

Polycystic Ovary Syndrome or PCOS is a hormonal condition that affects women's ovaries. This condition can develop due to genetic factors or hormonal imbalances. Hormones are like little messengers in our body that help control our growth, development, and mood. For those with PCOS these hormonal imbalances that can lead to some of the following symptoms:

Irregular hair growth
Irregular menstrual or ovulation cycles
Ovarian cysts - fluid filled sacs on the ovaries
Minor skin conditions like acne and skin tags
Mood changes
Weight gain
Pregnancy complications

It is important to speak with a doctor for managing PCOS and its symptoms. To help those with this condition, changes in diet and exercise are encouraged. Doctors can also share methods that may help to regulate menstrual cycles, acne breakouts, and irregular hair growth. Although this condition can be managed, treatment is limited and research is needed.

How is the research done?

Researchers are using BioVU resources to find a better way to diagnose and treat PCOS. The study team will study genes of those with and without PCOS. The DNA from these two groups will be compared to find genetic traits linked to PCOS. This will help researchers predict those at risk for developing PCOS and provide early detection and early treatment. In addition, the study team looks at patients' medical history to see if they could find other conditions that might be related to PCOS.

What is the importance of this study?

Polycystic Ovary Syndrome (PCOS) is a common condition that affects many women and their ability to have a baby. Diagnosing and treating PCOS can be difficult because it has a variety of symptoms, which can lead to high medical costs for patients. This research is important because it can help provide information for finding PCOS faster, which can improve treatment options and reduce costs for patients.

Genetics of preeclampsia

Genetics of juvenile arthritis (JIA)

Genetics of Preeclampsia

What is Preeclampsia?

Preeclampsia is a problem that can happen during pregnancy. It makes their blood pressure get really high and can cause organ damage. This condition can be life threatening for the mom that gives birth and the newborn baby if it's not treated. People who are overweight or have high blood pressure already are more likely to get preeclampsia. Additionally, those with a family history of preeclampsia are two to five times more likely to develop the condition. Symptoms may include:

Swelling
Sudden and unexpected weight gain
Headaches
Vision changes
Upper abdominal pain

Preeclampsia is managed with medication and close monitoring to prevent further problems. In serious cases, a hospital visit may be needed, and the baby may need to be delivered early.

How is the research done?

Researchers want to find new ways to prevent and predict preeclampsia. Using BioVU resources, the study team analyzes the DNA of those with this condition. This can help to find genes that may be linked to having preeclampsia and help find those at risk for developing it. The study team is hoping the genetic clues found can find a connection between preeclampsia and other health conditions. The researchers are also studying how blood pressure is related to preeclampsia to predict the risk of this disease.

What is the importance of this study?

The amount of people with this condition has increased. This research may help us to learn more about what causes preeclampsia and how to treat it. By doing this research, we hope to find new ways to help people who have preeclampsia and prevent it from happening in the future.

Genetics of glenohumeral osteoarthritis and musculoskeletal conditions

Pediatrics

Genetics of Juvenile Idiopathic Arthritis

What is Juvenile Idiopathic Arthritis?

Juvenile Idiopathic Arthritis (JIA) is a type of arthritis caused by the body's immune system mistakenly attacking joint cells. This autoimmune disorder is found in children under the age of 16. It can affect any joint, and in severe cases, it can affect a child's growth. JIA is believed to develop as a result of genetic and environmental factors. Symptoms of this condition include:

Swelling and pain around joints
Stiffness around joints
Fever or rash

Treatment usually involves medications and physical therapy to reduce symptoms and prevent damage to the joints.

How is the research done?

Scientists want to know if certain genes might make a person more likely to get Juvenile Idiopathic Arthritis (JIA). They also want to see if there's a gene that could make someone with JIA have a stronger immune response and more inflammation than others. To do this, they're going to study people with and without JIA to see if there are any differences in the way their genes work. They'll also check if there's a connection between how these genes work and certain things about people with JIA, like how old they were when they got sick, the specific type of JIA they have, or the kind of medicine they need. This could help them understand if certain genes are connected to these factors.

What is the importance of this study?

More research is needed to learn about what causes Juvenile Idiopathic Arthritis (JIA). This study is really important because it could help us understand if genes play a part in kids developing this disease. It might also help us see how genes relate to when the disease is found, how well medicines work, and what happens to the patient.

Genetics of chronic fatigue syndrome

Musculoskeletal

Genetics of Glenohumeral Osteoarthritis and Musculoskeletal conditions

What is Glenohumeral Osteoarthritis?

The Glenohumeral joint is the primary structure of the shoulder. It is very important for moving your arm and doing everyday tasks. Glenohumeral osteoarthritis (GH OA) is when the cartilage in the joint wears away. This will cause pain and difficulty moving your arm. This condition affects a lot of people, but we don't know exactly why it happens. Sometimes, certain genes in a person's DNA can make them more likely to get GH OA. These genes are like instructions that their body follows, and they can make the joint more likely to wear down over time.

How was the research completed?

Researchers plan to study the DNA of people who have GH OA and compare it to people who don't have it. They will look at tiny differences in their DNA called SNPs. They will try and find if there are any patterns that are more common in people with GH OA. They will also study other bone and muscle disorders in the same way.

What is the importance of this study?

This study will help us understand more about why some people get GH OA and others don't. By studying the DNA of people with GH OA, researchers can learn which genes are involved and how they contribute to the condition. This information can help identify people who are at higher risk of developing GH OA and find ways to prevent it from happening. Researchers can also use this knowledge to develop new treatments for GH OA. Identifying what contributes to GH OA, researchers believe the findings will be able to help with other muscular conditions like knee and hip OA.

Genetics of maternal obesity and the trophoblast transcriptome

Genetics of Chronic Fatigue Syndrome

What is chronic fatigue syndrome?

Chronic fatigue syndrome (CFS) is a medical condition that makes people feel very tired and weak. People with this condition feel tired all the time, even after resting or sleeping. They may also have trouble concentrating, headaches, and muscle pain. The cause of CFS is not fully understood, but it may be related to genetic problems with the immune or nervous system. There is no cure for CFS, but there are ways to manage the symptoms and improve quality of life. Ways to manage chronic fatigue syndrome.

Get quality sleep
Stay active
Eat a healthy diet
Manage stress.
Seek support.

How the research was done.

Researchers are looking at data from patients of different ages, genders, and ethnicities. They will only include patients between the ages of 18 and 60 because this condition is rare in children and older adults. The patients they use in the study will only be those who visit Vanderbilt for their regular check-ups and have visited the hospital at least three times.

Who will benefit?

By studying CFS, scientists can learn more about the causes and possible treatments for the condition. Understanding CFS can help doctors and healthcare professionals better diagnose and treat their patients who have the condition. Studying CFS can help researchers better understand how the body works and how different conditions affect it. Families and caregivers of people with CFS can learn more about how to support their loved ones and manage the symptoms of the condition. By improving our understanding of CFS, we can improve the health and well-being of individuals with this disorder.

Genetics of acute kidney injury

Gynecology, Obsterics

Genetics of Maternal Obesity and the Trophoblast Transcriptome

What is the Trophoblast Transcriptome (TT)?

The TT is the collection of all genes that are active in the placenta. The trophoblast is a layer of cells in the placenta that helps to nourish the developing baby. The study is looking at these genes in people of all ages because those genes are part of the developmental origins of health and disease (DOHAD).

How was the research done?

Researchers are using genetic results from blood samples to predict gene expression that would have occurred in an individual while they were in the womb. Those predicted placental genes can be linked to disease risks that were observed later in life. The placenta is the connection between the mother and child during development. The placenta can sometimes pass along certain disease risk factors that the child could eventually develop during life.

What is the significance of this study?

The purpose of this study is to better understand the connection between gene expression and adult diseases. Furthering the research and being able to understand the significance of genes and how they are linked to certain diseases will allow researchers to better predict and detect later life diseases. Early detection would allow people to be prepared and receive improved treatments.

Genetics of Acute Kidney Injury

What is Acute Kidney Injury?

Acute Kidney Injury (AKI) is a serious and dangerous disease that can cause problems with your kidneys, heart, and overall health. The worst kind of AKI can damage the inside of your kidneys and make them stop working properly. This is called intrinsic AKI (iAKI). People who have iAKI are more likely to die or have long-term problems with their kidneys. Veterans, because they are often older and have other health issues, are more likely to get iAKI compared to other people. Despite years of investment into this, there still aren't any successful treatments. This is why researchers are trying to learn more about what causes iAKI, so providers can do a better job of preventing and treating it.

How was the research done?

Researchers use advanced computer programs to analyze data about AKI. This will help find patterns and learn more about the different forms of this disease. They also look at data to identify traditional types of AKI, like pre-renal, iAKI, and post-renal AKI. Then, they develop separate categories for iAKI that happen in three different situations: heart surgery, heart catheterization, and sepsis (a severe infection). This will help them understand these types of AKI better. Next, they compare the DNA samples with their identified types of iAKI to samples who don't have AKI. This is to see if there are any differences that might explain why some people get AKI and others don't. They will look at the different types of AKI they identified in the data analysis and see if there are any genetic differences. They look at the genes that are most linked to iAKI and the identified types of AKI. They use new computer tools to predict how these genes might affect the kidneys. This helps them understand how these genes might cause AKI.

What is the significance of this study?

Ischemic iAKI is the most common and deadly form of AKI, especially for Veterans. The number of people getting this disease is growing by 11% each year according to reports from 2017. By studying the genes linked to this disease, researchers can learn more about what causes it. This could help them find new ways to treat it. It can also help doctors make better decisions by understanding who is at higher risk of getting the disease.

Genetics of CYP2C19

Genetics of haptoglobin genetic variation

Blood, Other

Genetics of CYP2C19

What is CYP2C19?

CYP2C19 is a helper protein in the liver that plays a big role in breaking down many medicines. It helps turn the drug clopidogrel into an active form that can do its job. Clopidogrel is a medicine that doctors prescribe to patients to prevent blood clots. Some people have a version of the CYP2C19 gene that doesn't work well, other have a version that works extra well. These differences can impact how the drug clopidogrel works in people with heart disease.

How was the research done?

Researchers want to see how the CYP2C19 gene activity level affects how doctors treat brain and blood vessel problems. These problems include stroke, brain aneurysms, and abnormal connections between arteries and veins in the brain. They have interest in how often strokes occur while people are taking clopidogrel to prevent blood clots.

What is the significance of this study?

Few studies have looked at how the CYP2C19 gene affects brain and blood vessel problems. Some research shows that people with a less effective version of the CYP2C19 gene may have a higher chance of having repeat strokes. This is the case for conditions like minor strokes, full strokes, and treatments for narrow carotid arteries. This study is looking to see if the type of CYP2C19 gene a person has can change how well clopidogrel works. Doctors could use this information to decide the best treatment to prevent strokes in each patient.

Genetics of plasma protein levels

Blood

Genetics of Haptoglobin Genetic Variation

What is Haptoglobin?

Haptoglobin is a protein in our blood that helps to protect our body when we are sick or injured. It works by binding to a substance called hemoglobin, which is found in our red blood cells. When hemoglobin is released into our bloodstream, it can be harmful to our body. But haptoglobin helps to remove it and prevent it from causing damage. Not everyone's haptoglobin works the same way. Genetic differences called genetic variations affect how well someone’s haptoglobin works. Scientists are studying these differences to see if they are linked to certain health problems, like diabetes or pneumonia. Understanding how haptoglobin works in different people will help us learn more about how to prevent and treat these diseases in the future.

How the Research was done.

Scientists used samples and medical information from BioVU to gather data about haptoglobin. They used record information about different health problems, like diabetes or pneumonia, to search for patients with these conditions. They looked at clinical test results in the records to see if they have a connection to haptoglobin levels. The researchers also look at tiny parts of different patient’s haptoglobin genes called SNPs. SNPs are tiny codes in our DNA that can affect how our genes work. They can see how haptoglobin SNPs can cause the gene to word differently for people. Scientists can then connect those genetic differences to different health issues.

What is the importance of this study?

Haptoglobin genetic variation may increase the risk of developing certain diseases. Studying Haptoglobin genetic variation can allow doctors to recommend lifestyle changes. It can also help develop new treatments which could prevent or treat diseases.

Genetics of appendix cancer

Genetics of Plasma Protein Levels

What are Plasma Proteins?

Plasma proteins are important parts of your blood. They have various jobs that help your body function properly. Some blood proteins help your blood to clot, preventing you from bleeding too much when you get a cut. Others help fight off infections by attacking germs that enter your body. There are also blood proteins that carry nutrients, hormones, and other substances around your body to where they are needed.

How was the research done?

The aim of this study is to use DNA testing to find certain proteins in the blood that could be signs of disease. Researchers think that changes in our DNA that affect these protein levels might also be linked to the risk of getting certain diseases. Researchers will look at many different genes and compare them to many different health conditions. This will help them see if any health conditions are linked to DNA changes that affect the levels of 2-5,000 different proteins in the blood. We will use this data to create a genetic risk score for each person.

What is the significance of this study?

Scientists have developed ways to measure levels of thousands of proteins in human blood samples. These protein levels can change due to slight differences in a person's genetic makeup. Researchers have found thousands of these genetic changes, that are linked to changes in protein levels. Researchers may be able to find out which health conditions might be linked to changes in protein levels due to genetic differences. Which could allow doctors to provide earlier treatments for these conditions.

Genetics of diverticular disease

What is Appendix Cancer?

Appendix cancer is a rare form of cancer that occurs in the appendix, a small organ attached to the large intestine. The cause of this condition is not fully understood yet. But, some things that might increase the risk of getting it include aging, unhealthy habits like smoking, and certain genes that you might inherit from your family. Signs of appendix cancer may include:

extreme stomach pain
bloating
changes in bowel movements

As with any cancer, early detection and treatment are crucial. Depending on the type of appendix cancer, different treatments may be needed. Common treatment includes chemotherapy and surgery.

How is the research done?

Researchers want to learn more about the development of appendix cancer and if it is related to genetics. The study team uses BioVU resources to select those with appendix cancer and analyzes their DNA to look at parts of the genes that are not usually studied. They will study the genes related to this disease and see if it is similar to other cancers. This may help reveal new information about how appendix cancer develops and who is more likely to get it.

What is the importance of this study?

This study is working to find a genetic link to appendix cancer and if it can be passed down in families. This research can help improve prevention and treatment options for those at risk or managing this condition.

Genetics of various responses of sepsis

Genetics of Diverticular Disease

What is Diverticular Disease?

Diverticular disease is a condition that affects the large intestine, a part of the digestive system. Sometimes the inside of the intestine wall can weaken. Pressure to these weak spots can cause small pouches or sacs to bulge from the intestine wall. This can cause inflammation and infection, which can be painful. The exact cause of this pressure and weakness is not fully understood. It is believed to be related to a diet low in fiber and high in processed foods, as well as aging and other factors. Symptoms include:

Stomach pain
Diarrhea
Vomiting
Fever

Doctors may suggest changes in diet or lifestyle to help manage this condition. In some cases, this condition can be treated with antibiotics or surgery to remove the affected part of the intestines.

How is the research done?

Researchers have looked into specific genes that are linked to diverticular disease. The researchers are using BioVU resources to study these genes to find out who is more likely to develop diverticular disease and other related health problems. They are also checking other factors that may impact the chances of developing the condition, like race, environment, diet, and exercise.

What is the importance of this study?

It is important for medical professionals to know who is at higher risk for having a bad case of this condition. Genetic factors may help explain how mild or severe the condition could get. This will increase our understanding of diverticular diseases and help match the best treatment to each patient.

Genetics of Sepsis Various Responses

What are Hyper-inflammatory and Hypo-inflammatory Septic Responses?

Sepsis is a serious condition that happens when a person’s immune system does not work as it should when facing an infection. There are two types of sepsis responses: hyper-inflammatory and hypo-inflammatory. In hyper-inflammatory sepsis, the immune system responds too much and causes excessive inflammation. In hypo-inflammatory sepsis, the immune system does not respond enough and can allow the infection to become more severe. Both of these responses can be dangerous and make a person very sick. Overall Sepsis Symptoms:

Chills or shaking
Nausea and vomiting
Diarrhea
Fatigue

Hyper-inflammatory Sepsis Response:

High fever
Rapid heartbeat and breathing
Redness or swelling at the site of infection

Hypo-inflammatory Sepsis Response:

Low-grade fever or no fever
Slow heartbeat
Slow or shallow breathing
Pale or cool skin

Why the immune system responds in these ways is not entirely understood. It may be related to genetics and other health conditions. To treat sepsis and its varied responses, a hospital visit is required, and a number of medications are used to help.

How is the research done?

Vanderbilt researchers want to understand more about how our genes affect the way our body responds to infections. The study looks at genetic traits that are linked to hyper-inflammatory and hypo-inflammatory sepsis responses to help uncover why some people react differently to infections. Additional factors, such as age, sex, and race, will also be considered to help find connections to hyper-inflammatory and hypo-inflammatory sepsis response.

What is the importance of this study?

Sepsis is a serious condition that could lead to long periods in the hospital and even death in some serious cases. It is important to get treatment for infections right away to prevent sepsis and other harmful reactions. Scientists are researching different types of sepsis responses to help doctors find better treatments that work for different people.

Genetics of hypertension

Genetics of neurofibromatosis

What is Hypertension?

Hypertension, also called high blood pressure, happens when blood pushes too hard against the walls of blood vessels. This puts extra stress on organs like the heart and kidneys. Things like unhealthy eating, not exercising enough, and being overweight can cause high blood pressure. However, changing one’s diet and taking medicine can help control this condition. Those with this condition may experience the following symptoms:

Headaches
Shortness of breath
Dizziness
Chest pain
Nosebleeds

How is the research done?

Researchers at Vanderbilt are using BioVU resources to find genes associated with high blood pressure. Finding genetic links to high blood pressure can help the researchers predict who might be at risk for having high blood pressure. This can help them before more serious health conditions develop such as heart disease.

What is the importance of this study?

If high blood pressure is not treated, it can lead to other health problems like diabetes or heart disease, which can be deadly. This is a big problem worldwide. Knowing causes of high blood pressure can help find ways to detect it early and prevent it from causing more serious health problems in the future.

Genetics of hypertension and cardiovascular risk factors in adolescents

Genetics of Neurofibromatosis

What is Neurofibromatosis?

Neurofibromatosis Type 1 (NF1) is a condition that someone can be born with and it makes lumps or non-cancer tumors grow on nerves. These tumors can be seen on or under the skin. It can also cause damage to the skin, eyes, bones, and other organs. However, each person that has NF1 can have a different set of these symptoms. There is no cure for NF1 right now, but there are treatments available to help manage the symptoms. It's important for people with (NF1) to see a doctor regularly and to discuss any concerns they have with their doctor.

How is the research done?

Researchers at Vanderbilt use BioVU resources to learn more about NF1. They studied DNA from people with Neurofibromatosis to look at their genes. This will help them find specific differences in genes that might be linked to this condition or other health conditions related to NF1. They also looked at the electronic health records to see how the sets of symptoms that NF1 patients have changed over time. By doing this, the study team may find causes of Neurofibromatosis and discover how it affects different people.

What is the importance of this study?

The primary goal of the study is to learn more about NF1 by studying how it affects people's bodies. Researchers hope to find out more about how the disease progresses over time, and what conditions are related to it. They can learn how to make special treatments for people who have NF1 by doing this and will help them feel better.

Heart Disease, Pediatrics

Genetics of Hypertension and Cardiovascular Risk Factors in Adolescents

What is Hypertension?

Hypertension, also known as high blood pressure, is a serious health condition that affects many people, including children. When a child has hypertension, it means that their blood is pushing against the walls of their blood vessels too hard. This can cause damage to the blood vessels and other organs in the body. This can increase the risk of heart disease and stroke later in life. Research shows that children who have high blood pressure are more likely to have cardiovascular risks in early adulthood. Risk factors for Hypertension.

High Cholesterol
Obesity
Insulin Resistance
Genetics
Stress
Lack of physical activity

It is important for parents and healthcare providers to check children for hypertension, and to take steps to help prevent it. This can include encouraging healthy eating habits, regular exercise, and stress management techniques.

How was the Research done?

Researchers are using two databases, the Synthetic Derivative (SD) and BioVU, to help with this study. They are looking at both boys and girls who are under 18 years of age and have data in the SD. Blood pressure measurements from when the person was in the hospital will not be included in the study. The goal of the study is to learn more about blood pressure and how it is affected by different factors.

Who will Benefit?

Heart disease is a major cause of death around the world, and many of these deaths are due to high blood pressure. Studies have shown that having high blood pressure as a teenager can increase the risk of developing high blood pressure as an adult, which can lead to heart disease and other health complications. By tracking risk factors early on, we can create personalized interventions to help prevent high blood pressure. This can reduce the risk of heart disease and other health problems later in life.

Genetics of immunome markers of disease

Genetics of sepsis and serious infections

Genetics of Immunome markers of Disease

What is an Immune System Biomarker?

A biomarker is a way to test the state of one’s health condition or how well a treatment is working. In this study, researchers want to use the pattern of genes related to cells and molecules that help the body fight infection as biomarkers. The T cells and antibody molecules are part of the toolbox that make up the immune system that is needed to naturally fight infection. The study will look at how a person’s genetic makeup can cause their immune system to make them sick instead of helping fight infections. The researchers want to find unique DNA codes in T cell and antibody genes that are common in people that have different immune-related conditions, including:

Ulcerative Colitis
Arthritis
Multiple Sclerosis
Type 1 Diabetes

This genetic code is used as a biomarker. It could improve our ability to diagnose and suggest specific treatments for people with immune-related conditions.

How was the research done?

Researchers want to study 100 people with 10 different diseases that affect the immune system. They will look at the genes in their antibodies and T cells to see if there is a difference between a normal immune reaction and a disease-causing reaction. They will search for people who have not yet been treated for their disease and collect their DNA. They will then compare these gene samples to those of healthy people to see if there are any differences. If they find differences, they will look more closely at the specific genes and how they might be causing the disease. In the future, they may be able to use this information to better diagnose, predict how their disease will progress, or treat them more effectively.

What is the significance of this study?

The immune system can change throughout one’s life. Better understanding the genes and molecules that are balanced between a healthy immune reaction and one that causes disease is important. This will allow for more precise treatments for many immune-related diseases that currently have treatments that could use much improvement. Better treatments can help these patients manage their conditions better with less side effects.

Genetics of diabetic retinopathy disease

Genetics of Sepsis and Serious Infections

What is Sepsis?

Sepsis is a deadly illness that can happen when our body is fighting off germs. The body’s immune system helps fight off germs like bacteria, viruses, and fungi. But for individuals diagnosed with sepsis, their immune system does not work properly and this causes harm to the body instead of helping it.

Sepsis can cause a range of symptoms including: ● Fever, chills, or shivering ● Increase heart rate ● Low blood pressure or dizziness ● Extreme pain or discomfort ● Trouble waking up or staying awake

Sepsis can have long-lasting effects on a person's health, such as tiredness, mood changes, and loss of appetite. In serious cases, sepsis can cause organ failure or death. To treat sepsis, a hospital visit is required, and a number of medications are used to help. It is important to catch sepsis early and start treatment as soon as possible. This can help people recover faster and avoid more serious problems.

How was the research done?

Researchers at Vanderbilt carried out a study using BioVU resources and de-identified electronic medical records. They hope to uncover factors that cause sepsis and serious infections. The researchers are looking at the DNA of patients who have sepsis to see if there are any genetic differences that might be related to how bad the infection problems can get. They are also looking at how these genetic differences might be connected to the symptoms of sepsis and predict people who are at a higher risk of developing sepsis. They hope to understand more about how genes affect sepsis and find ways to stop people from getting sick or recover quicker. The study population included adults that stayed in the hospital and had signs of organ problems that were treated for sepsis. The study will use math to prove if the genetic differences they found are important. They will also look at things like age, gender, and race to see if these things make a difference in how people get sepsis.

What is the importance of this study?

The main goal of this study is to find genetic and non-genetic clues of serious infections and sepsis development, using de-identified electronic health records and DNA research methods. Sepsis continues to be a major challenge to public health. It can be harmful to the body and has high death rates. Additionally, healthcare costs to treat sepsis can be very expensive. Sepsis research will help diagnose sepsis early and help find better treatment strategies. We hope this research will reduce the impact of sepsis on people and healthcare systems.

Genetics of PHACE syndrome

Genetics of Diabetic Retinopathy Disease

What is Diabetic Retinopathy?

Diabetes mellitus is a condition that can happen when your body can't control how much sugar is in your blood. This can cause high levels of sugar in the blood. This high sugar can damage blood vessels throughout the body, including in the eyes. This can cause problems in the eyes and lead to diabetic retinopathy (DR). DR can cause blood vessels found in the back of the eye to break down. This can cause new blood vessels to grow where they are not supposed to. This can make it hard to see and can even cause blindness. Some signs of DR can include experiencing: - Blurred vision or vision loss - Difficulty seeing at night - Seeing spots or dark strings floating in your vision - Eye pain or pressure However, early stages of DR may not have any noticeable symptoms. This is why it is important for people with diabetes to have regular eye exams to check for any signs of the disease. DR is the main cause of blindness in adults and it affects millions of people all over the world.

How was the research done?

Vanderbilt scientists are trying to find out if there are certain genes that make people more likely to get DR. The research team used BioVU resources to find individuals with and without DR. Once found, their DNA was studied for genetic differences that may be linked to the disease. The genetic differences found can be used to predict how likely someone is to get DR based on their genes. The team will then use more specific research methods to look at how different genes are turned on or off in people with DR. This means they will look at how different genes are controlled by the body's instructions. Lastly, the team will combine evidence found to uncover DR associations across different racial groups. This could help find individuals who are at higher risk for DR and give them better care.

What is the significance of the study?

Vanderbilt researchers are seeking to identify common genetic differences that may be associated with the disease. The hope is that this research will ultimately lead to a better understanding of the disease and improved care for patients with diabetes mellitus and diabetic retinopathy.

Immune System Disease, Pediatrics

Genetics of PHACE Syndrome and Evaluating Its Causes.

What is PHACE Syndrome?

PHACE Syndrome is a rare medical condition that affects the brain and skin in babies and young kids. PHACE is named after the first letter of each feature that defines this condition. PHACE features can be different for every child and symptoms can range from mild to severe.

The symptoms of PHACE syndrome include:

Posterior fossa malformations - (issues with forming part of the brain that controls balance and vision)
Hemangiomas - (red birthmarks that do not usually cause other problems)
Arterial anomalies - (abnormal blood vessel formation that can cause issues with blood flow)
Cardiac defects - (heart development problems that make it not function as well as it should)
Eye abnormalities - (abnormal eye development that can cause vision problems)

Scientists think PHACE Syndrome happens due to a genetic difference present at birth. This genetic difference affects how blood vessels grow in the body. The BCOR gene has been found to be linked to this condition, but it's not the only cause. More research is needed to figure out all the genes that cause PHACE. Doctors and experts are working together to find ways to help kids with this syndrome, but there isn't a set treatment yet.

How was the research done?

Vanderbilt researchers want to learn more about PHACE. Using BioVU resources, the researchers are able to study a small set of PHACE patients. The DNA information from these patients is studied to find genetics related to PHACE. The researchers will figure out if the genetic traits could raise the risks for getting certain diseases. They will also look at a specific gene called BCOR to see if the PHACE Syndrome patients have a difference in that gene like other studies have found. The idea of the study is that poor function of the BCOR gene and a group of other genes cause PHACE Syndrome. By doing this research we can learn more about PHACE and its genetic causes. This may lead to new treatment and preventions.

Who will this research benefit?

The research team found changes, known as genetic markers, in the BCOR gene of patients with PHACE Syndrome, which might be what's causing their symptoms. These new genetic markers can help doctors better detect and treat people with PHACE Syndrome. This research can help doctors better understand PHACE Syndrome and how to better treat it.

Genetics of sickle cell disease

Genetics of blood stem cells

Genetics of Sickle Cell Disease

What is Sickle Cell Disease?

Sickle cell disease (SCD) is a sickness that can run in families. It happens when someone’s red blood cells that carry oxygen do not work as well as they should. This causes the blood cells to be shaped like crescent moons instead of circles. When the blood cells are this shape, they can't move through our body as easily and prevent proper oxygen flow to the body.

Body pain
Feeling tired and weak
Skin and eyes turning yellow
Getting sick often
Organs in the body getting damaged.

There are not many ways to cure SCD, but it can be managed with medicine as well as providing more or new blood.

How is the research done?

Researchers at Vanderbilt want to learn more about SCD and discover if it is linked to heart, lung and or kidney diseases. They believe that genetic traits that cause heart, lung, and kidney disease are linked to early death in SCD patients. The study focuses on SCD patients from 4 hospitals, including Vanderbilt. The research will look closely at DNA before and after SCD treatment. The information from DNA can be used to predict which SCD patients could have risks for heart, lung, and kidney diseases. The researchers will also check if some genetic traits that are more common if African Americans with heart lung and kidney diseases are linked to a more serious form of SCD. The goal of the study is to find out what genes cause SCD or can make it worse to make better treatments for people who have it.

What is the importance of this study?

We are learning more about how heart, lung, and kidney diseases can make people with SCD very sick or even die earlier. As we learn more, we can give better treatment to people with SCD now and prevent them from getting sick in the future. This will help people with SCD live longer and healthier lives.

June 2022

Genetics of Blood Cells

What are blood cells?

Stem cells are cells that can become many other types of cells. These include:

Muscle cells
Heart cells
Nerve cells
Blood cells

Blood cells include red blood cells, white blood cells, and platelets. Red blood cells carry oxygen to the rest of your body. White blood cells help fight infections. If you are bleeding, platelets help your blood to clot. We have a good balance of each type of cell in our blood stream. If a gene change happens in a stem cell, then that cell can pass the change on to the cells it creates.

What is a gene change?

Genes are segments of DNA. We have 2 copies of most genes--one from each parent. Genes are instructions. Sometimes the instructions might read a little different. This difference is a mutation or gene change. Most changes are harmless. But some may raise our risk for problems or cause disease. You can be born with gene changes. They can also happen after we are born. Those changes only happen in the cell affected. Examples include:

Radiation from the sun can cause gene changes in skin cells.
Smoking can cause gene changes in lung cells.
Harmful chemicals can also cause gene changes.

Gene changes also occur as we age. Sometimes, a gene change can give one cell an advantage over other cells. When this happens with blood stem cells, the stem cells make one type of blood cell more than the others. The term for this is clonal hematopoiesis, or CH for short.

What is clonal hematopoiesis of indeterminant potential (CHIP)?

“Clonal” means clone, or a group of all the same cell type. For example, red blood cells. “Hema” or “hemato” means blood. “Poiesis” means forming. So, CH occurs when a stem cell makes one type of blood cell more than the others. CH of indeterminate potential (CHIP) is caused by gene changes. The gene changes are not yet dangerous. People with CHIP may feel healthy. But, CHIP can raise your risk for blood cancers or heart disease. It is rare in people under 30, but about 1 in 10 elderly people have it. Scientists at Vanderbilt University Medical Center want to learn more about CHIP. They want to find out what causes the disease and what are the effects. They will use BioVU to compare the genes of patients with and without CHIP. They will look for gene changes linked to CHIP. The results may help us learn more about which gene changes cause CHIP. If we know more about the cause, we can work to develop new treatments. We also might learn who might be at risk for CHIP. That may help us look for ways to slow it down or even prevent it.

Genetics of epilepsy

April 2019

Genetics of a lung disorder

Epilepsy is a "seizure disorder." If you have epilepsy, your brain activity can become abnormal. You can have a rush of electrical activity in your brain that affects your body. That effect on your body is the seizure. Seizures can look different in different people. -You may have fast, jerking motions called convulsions. -You might slump or fall forward. -You may have unusual behavior. It might even be hard to tell if someone is having a seizure. Some people get warning signs. Some people don't. Everyone is different. 1 in 26 people will get epilepsy at some point. It can develop at any age and cause other health problems. It is more common in young children and older adults. Medicine helps some people. What causes epilepsy? Head injuries can cause epilepsy. A brain tumor or stroke can also be the cause. Some infections may cause epilepsy. Some people with autism also have epilepsy. Genetics can play a part. My genes are different than your genes. That's what make us unique. But, those differences can also raise our risk for a disease. Scientists know that some gene changes can raise our risk for epilepsy. There is a lot we do not know. Researchers at Vanderbilt University Medical Center want to study epilepsy. They will use BioVU to find patients who do and do not have epilepsy. They will look for gene differences in both groups. They will compare genes in patients who are similar in age and background. They will work with researchers from around the world. The goal is to find gene changes linked to each type of epilepsy. Their results may help us learn more about epilepsy. The goal is to find better ways to help people with epilepsy. We may also find new drugs that work better.

April 2019

Genetics of infection risk

Acute respiratory distress syndrome, or ARDS, is a lung disorder. It can occur in people who have a major infection or injuries. A bad case of pneumonia or a serious bloodstream infection are examples. Breathing chemical fumes or smoke from a fire can also cause ARDS. Accidents, like a bad fall or car crash can lead to ARDS. ARDS is when fluid builds up in the air sacs in your lungs. This makes it hard to get enough air. When you do not have enough air, less oxygen reaches your organs. People who get ARDS may not survive. Of those that do, some will be fine. Others may have long term damage to their lungs. We have no approved drugs to treat ARDS. And we do not have a way to help those at risk. Your age, health, and other factors play a role in who will get ARDS. Scientists think that genetics may also play a part. We are all born with some gene changes. They are what makes us unique. But they may also raise our risk for certain diseases. Researchers at Vanderbilt University Medical Center want to study ARDS. They will use BioVU to find patients who were at risk for ARDS. They will compare the genes of patients who got ARDS to those that did not. The goal is to find gene changes that may raise your risk for getting ARDS. Their results may help us find a new drug to treat ARDS. They may also help us find out who may be at higher risk for getting ARDS.

March 2019

Genetics of getting diabetes when pregnant

Our immune system is our defense system. It helps protect us from things that can make us sick. Lots of proteins make up this system. Some proteins fight infections. Others prevent bacteria from making us sick. Sometimes, one of the proteins does not work well. This can cause a weak spot in our defense. It can raise our risk for certain types of infections. Or make it harder for us to fight those infections. Genes contain the instructions for making proteins. We are all born with some changes in our genes. Most of these do not affect the proteins they make. But sometimes, they do. They may cause the protein not to work well. Or it may not work at all. Our gene changes are what makes unique. But they may also raise our risk for a disease. Researchers at Vanderbilt University Medical Center want to study one immune protein. They think changes in that protein may raise our risk for lung infections. Pneumonia is a lung infection. There are two types. Bacteria cause one type. Viruses cause another type. The bacterial version is often more serious. If it is not treated, it can lead to death. Researchers want to know more about this protein. The will use BioVU to study the gene that makes the protein. They will look for people with and without changes in the gene. Then, they will see who had a bacterial infection. The want to check for a link between the gene changes and infections. If they find a link, they will do more research. Their results could tell us how the changes raise our risk. They may also help us find out who is at risk for bacterial infections. This could help us catch infections early. The sooner we treat the infection, the less time you are sick.

January 2019

Diabetes, Women and Health

Some women get diabetes when they are pregnant. This is gestational diabetes mellitus, or GDM. Diabetes affects how your cells use sugar. It causes high blood sugar. With GDM, this can affect your health. And the health of your baby. Most women do not notice any symptoms. Your health care team will check your blood sugar as part of your care. Women can control GDM by eating healthy foods. And exercising. Some women may need to take medicine. These can keep you and your baby healthy. And prevent a difficult birth. After you give birth, your blood sugar often returns to normal. But, it does raise your risk for type 2 diabetes. Regular checkups and a healthy lifestyle can help. Genes contain the instructions for making each protein. We are all born with some changes in our genes. They are what makes us unique. But they may also raise our risk for a disease. We do not know why some women get GDM. Researchers think gene changes may give us clues. Scientists at Vanderbilt University Medical Center will use BioVU to study GDM. They will look for women who are pregnant. Then they will check who did and did not have GDM. They will look for gene changes linked to GDM. They will also look for other things that may raise your risk for GDM. Their results could help us find out who is at risk for GDM. They could also help us better treat or prevent GDM. The goal is to help all women have a healthy pregnancy.

Genetics of ulcerative colitis drugs

January 2019

Ulcerative colitis, or UC, is a bowel disease. Symptoms include cramps. Abdominal pain. Blood in your stool. And weight loss. It can make you feel weak and sick. UC may even lead to life-threatening problems. Symptoms develop over time. These include diarrhea. Abdominal pain. Cramps. Blood in your stool. Weight Loss. Feeling tired. Or fever. UC is a chronic condition. This means that once you have it, it does not go away. UC has no cure. But we do have drugs that can reduce the signs and symptoms. These drugs result in remission for most people. Remission is a temporary recovery. The signs and symptoms are gone, or almost gone. But the problem can still come back. In more than half the people that take UC drugs, the symptoms come back. In some people, the drugs never work. We do not have a good way to tell for whom the UC drugs will work. Or whose UC will come back. Scientists at Vanderbilt University Medical Center think that gene changes could give us clues. The researchers will use BioVU to study UC. They will look for patients with UC who take drugs to control their symptoms. Then they will check for gene changes. They think there is a link between gene changes and UC that comes back. And gene changes and people for whom UC drugs do not work. Their results may help us learn more about UC. For whom UC drugs will work well. Who may relapse. And for whom they will not work at all. The results may help us find new drugs to treat UC patients. The goal is to know which UC drug will work best for each patient.

Genetics of Stuttering

January 2019

A genetic factor that may play a part in childhood obesity

Stuttering is a speech disorder. People who stutter know what they want to say. They may get stuck on a word. They may repeat a word or sound. Being tired or excited can make you stutter. It can get worse when you are nervous. Stuttering is common as children learn to speak. About 1 in 20 children stutter. Most children outgrow this type of stuttering on their own. Speech therapy can help too. About 1 in 5 children who stutter will not outgrow it. They still stutter as adults. Adults that stutter tend to be men. We do not know what causes stuttering. Stuttering often runs in families. Scientists think gene changes may play a role. Researchers at Vanderbilt University Medical Center and Wayne State University want to study stuttering. The will look for people who do and do not stutter. Then they will compare their genes. They will look for a link between gene changes and stuttering. First, they will reach out to people who stutter. They will ask for some medical history. They will collect saliva for DNA testing. They will also use BioVU to find people who do and do not stutter. The goal is to find gene changes that may lead to stuttering. Their results may help us learn more about stuttering. The goal is to help those who stutter.

December 2018

Almost 2 in 5 children in Tennessee are overweight. We are #1 in the US. That is not good news. Most children who are overweight tend to stay that way as adults. They have two times the risk for heart disease. And four times the risk for diabetes. Even if they lose weight when they get older, the risks do not go away. Many things can cause us to be overweight. Eating too much. Not enough exercise. But genetics may also play a small part. Scientists know that changes in some genes can change how we process certain foods. We are all born with some gene changes. Most of us cannot process foods like milk or cheese. But some of us can. We have a gene change that allows us to do this. Other people cannot have foods that have a certain amino acid. They have a gene change that does not let them process it. Scientists have found a gene change that affects how some people process a type of fat. Researchers at Vanderbilt University Medical Center will use BioVU to find out more. They will look for children who are and are not obese. They will check for the gene change. They want to find out if the gene change is more common in obese children. Their results may help us predict which children may become obese. This could help us stop children from gaining too much weight. We want all children to be healthy and live long lives.

Genetics of the placenta

November 2018

Genetics of pancreatic cancers

We know that pregnancy comes with risks. One risk is giving birth before the fetus is ready. Or babies that are small for their age. Or bleeding during pregnancy. These are some of the big problems. And we do not always know why they happen. For instance, mom's diet could affect the size of the baby. But so could high blood pressure. Or diabetes. Or if the mom drinks alcohol or smokes when pregnant. Having twins or triplets. Infections. Genetics. And more. The placenta is a temporary organ. It forms during pregnancy. It is flat and attaches to the wall of the uterus. It provides oxygen and nutrients to the fetus through the umbilical cord. And removes waste products from the fetus. Once you give birth, you no longer need your placenta. So, you deliver that too. The placenta may give us clues or answers to some common pregnancy problems. Doctors found a link between information in placentas and some pregnancy problems. The information may also predict future disease in the baby. Scientists at Vanderbilt University Medical center will use BioVU to go one step further. They think there is a link between gene changes and the information in the cells of the placenta. They will look for women who had problems with their pregnancy. They want to find women who had their placenta checked. Then they will use BioVU to check for gene changes. Their goal is to find gene changes linked to pregnancy problems. Or diseases that the baby might get. Their results may help us better predict who is at risk for pregnancy problems. They may also help us stop or treat those problems. We want to help women have healthy babies.

October 2018

Genetics of high blood pressure in the lungs

The pancreas is an organ. It is behind your stomach. It makes proteins that help control your blood sugar. And help you digest your food. Pancreatic cancer is cancer that starts in the pancreas. It is hard to detect early. And it can spread fast. You often do not have symptoms until you have had it for a while. Signs include pain in your stomach area or back. Not feel like eating. Or losing weight. Blood clots. Tiredness. Feeling depressed. It can cause diabetes.Smoking can put you at risk for pancreatic cancer. So can being overweight. Diabetes. And long term, or chronic, inflammation of the pancreas. A family history of pancreatic cancer can also put you at risk.Some people have cysts in their pancreas. These are small sacs of fluid. They can be big or small. Most do not cause problems. You may not even know they are there. They are not cancer. But some pancreatic cysts can turn cancerous. Your doctor can test the cysts to find out. About 1 in 4 pancreatic cancers start with cysts. You can see cysts with ultrasound, a type of medical image. This is good news. Your doctor can test the cysts to find out. And keep checking them over time. This helps us catch the cancer early if the cysts turn cancerous.Scientists at Vanderbilt University Medical Center will use BioVU to study pancreatic cysts. They want to know more about them. And what makes some turn into cancer. They will look for people do and do not have pancreatic cysts. They will also look for people with pancreatic cancer that do not have cysts. Then they will look for gene changes in each group. The goal is to find gene changes that may cause the cysts to turn into cancer. Their results may help us learn more about what causes other pancreatic cancers too. And who may be at risk for getting pancreatic cancer. The sooner we find cancer, the better chance you have to beat it. We may find new ways to treat these cancers too.

September 2018

Heart Disease, Immune System Disease

Hypertension means high blood pressure. It is when pressure in your arteries stays higher than it should. Arteries carry blood to your body. Pulmonary arterial hypertension (PAH) is a type of high blood pressure. It affects the arteries in your lungs. And the right side of your heart. The right side of your heart pumps blood to the lungs. The blood picks up oxygen in the lungs. The oxygen-rich blood goes back to the left side of your heart. Then the left side pumps this blood to the rest of your body. In PAH, the pressure builds-up in the lung arteries. This causes the right side of your heart to work harder. The right side must push against the high pressure. Over time, this makes the heart muscles weak. Lung diseases can cause PAH. So can heart diseases. AIDS. And scleroderma. In scleroderma, your immune system starts to attack connective tissue. Like cartilage. Or bones. Or blood vessels. Your body fights back by making extra collagen. Collagen is a protein in connective tissues. But too much can cause our blood vessels to get stiff. It can also make them narrow. Both these make it harder for the heart to push blood to the body. We do not always know what causes PAH. Scientists think that gene changes may give us clues. Researchers at Vanderbilt University Medical Center want to study PAH. They will work with another group from the University of Arizona. They have genetic data from people with PAH. Some of these patients have PAH linked to scleroderma. Some of them also respond well to drugs that help control PAH. They want to check what they found. They will use BioVU for this. They will look for people with scleroderma that do and do not have PAH. They will check for a link between gene changes and PAH. And between gene changes and scleroderma. They will also check for gene changes linked to drug response. The goal is to find gene changes that may cause PAH. Their results may help us learn more about PAH. And who may be at risk for getting PAH. It may also help us learn what medication will work best for each patient.

Connecting specific gene changes to diseases

September 2018

Proteins are molecules in our bodies. They do all kinds of jobs. They support us. Help us digest our food. Protect us from harmful bacteria and viruses. Pass messages. And many other things. Researchers at Vanderbilt University Medical Center want to study proteins that pass messages. The proteins are like runners in a relay. The first person gets the baton. The baton is the message. The race starts. The first runner runs. Then hands the baton to the next person. The runners are proteins that pass the message along. They repeat this until the last person crosses the finish line. This is the message reaching the last protein. The message tells the last protein what to do. Genes contain the instructions for making each protein. We are all born with some changes in our genes. Most of these do not affect the proteins they make. But sometimes, they do. A gene change may affect a message carrying protein. This can affect how is passes the message. A common message tells cells to grow. If the last protein does not get this message, then the cell does not grow. Or if it keeps getting the message, the cell might start to grow out of control. Both can cause problems. Or diseases. Messages can also say "move your arm." Or feel pain. Or make insulin. Scientists here will use BioVU to study message carrying proteins. They want to know more about how the proteins pass messages. They want to know about the link between these proteins and diseases. And if there is a link between gene changes that affect these proteins and diseases. They will look for people who have gene changes in message carrying proteins. Then they will check for any diseases. The goal is to find gene changes that may cause problems. Their results may help us learn more about message carrying proteins. And who may be at risk for getting certain diseases.

Genetics of liver cysts

August 2018

Genetics of sudden death from heart disease

A cyst is a small sac of fluid or air. They can be big or small. They can grow almost anywhere in your body. In almost any organ. Or under your skin. They are not cancer. But some can cause problems. They may grow in groups in your liver or kidneys. This increases the size of your organ. Over time, more cysts may grow. And they can get bigger. This is the case in polycystic liver disease (PLD). Poly means many. Signs of PLD include abdominal pain. Shortness of breath. Indigestion. Acid reflux. And trouble moving. But the good news is your liver still works. PLD is genetic. It can run in families. We all have two copies of each gene. We get one from mom. The other from dad. Some of the genes we get from our parents have changes. Most of the gene changes do not cause problems. They make us who we are. But sometimes, gene changes can cause a disease. This the case with PLD. You only need one gene with the gene changes that can cause PLD to get the disease. The medical term is "autosomal dominant." The shorthand is ADPLD. We know that changes in three genes can cause ADPLD. But there may be more. Scientists at Vanderbilt University Medical Center will use BioVU to study ADPLD. They want to know more about it. And the gene changes that cause it. They will look for people do and do not have ADPLD. Then they will look for gene changes in both groups. The goal is to find new gene changes that may cause ADPLD. Their results may help us learn more about other polycystic diseases. Like ADPKD, the kidney version of ADPLD. We may find new ways to treat cyst diseases.

August 2018

Genetics of kidney disease

Sudden cardiac death, or SCD, is a big health problem. In SCD, your heart stops beating. And you stop breathing. Something messes up or stops the signals that tell your heart to beat. It is different from a heart attack. In a heart attack, part of your heart does not get the blood it needs. It damages your heart. A heart attack can lead to SCD. SCD causes half of all heart disease deaths each year. Heart failure can put you at risk. So can heart disease. Some diseases can change the shape of your heart over time. Like diabetes. Or high blood pressure. The walls of your heart may get thick. This can make it harder to pump blood to your body. Changes in the shape of your heart can put you at risk for SCD. Or, you may have a genetic disorder that affects your heart rhythm. This can also put you at risk. Gene changes can affect your heart in many ways. Each gene change may play a small part. Having one gene change may not affect your risk. But the gene changes can add up. The more you have, the bigger the risk. But many people who die from SCD do not have heart problems. Or heart shape changes. Or genetic heart problems. They are often in their 30s or 40s. They may have a family member who died from SCD. But most of the time, we do not know why. Their heart just stops. Scientists at Vanderbilt University Medical Center want to know more about SCD. They will use BioVU to try to find gene changes linked to SCD. They will first look for gene changes that raise your risk for SCD. They will check if patients with these gene changes have any of the other risks for SCD. Like heart disease. Or heart rhythm problems. Then they will look for other people who are and are not at risk for SCD. They will check for gene changes. They think that people at risk will have more gene changes. The goal is to find a way to better predict who is at risk for SCD. The earlier we know, the more we can do to keep your heart beating. Their results may also help us find a new way to prevent SCD.

August 2018

Genetics of a rare skull formation disorder

Chronic kidney disease, or CKD, is when your kidneys start to slow down. In time, they won't work at all. Your kidneys filter out small particles and extra fluids from your blood. You excrete them in your urine. In CKD, they build in up your body. In the early stages of CKD, you may only have a few signs. These include nausea, throwing up, or not wanting to eat. Feeling tired and trouble sleeping are also signs. As it gets worse, your feet or ankles may swell. You may have chest pain or trouble breathing. These are from fluid building up in or around your feet, heart or lungs. You may not notice the signs until your kidneys barely work. Diabetes and high blood pressure can cause CKD. Inflammation or infections in and around the kidneys can also cause it. Other things can put us at risk. Heart disease, smoking, and being overweight are a few. Genetics can also play a part. We can treat CKD and slow down the kidney damage. But we cannot stop it yet. One day, your kidneys may fail. If this happens, you will need a machine to filter your blood. You have to do this three times a week. Without this, or a new kidney, you will die. Scientists at Vanderbilt University Medical Center want to find a new way to treat CKD. They will use BioVU to study genes linked to CKD. Most genes make proteins. But we first have to turn on the gene. Then it will make the protein. If we do not turn it on, it will not make the protein. We only turn on the genes we need in each cell. If we cannot turn on a gene when we need to, it can lead to problems. Or cause a disease. The scientists will use BioVU to look for patients who have CKD. Then they will look for changes in the genes linked to CKD. They will also check to see if these genes are turned on. Last, they will check if the gene changes link to other conditions or diseases. The goal is to learn more about the role gene changes play in CKD. And if the gene changes link to other diseases or conditions. Their results will help us find out who might be at risk for CKD. They may also help us find new ways to treat CKD.

Genetics of bones that break easily

Chiari [key-AH-ree] malformations happen when your brain does not all fit in your skull. Your skull may be too small. Or, it is not shaped right. So, part of your brain goes into your spinal canal. This is the space in the middle of your backbone. There are three types. Type 1 happens as the skull and brain are growing. So, you might not notice the signs until you are a teenager or adult. Types 2 and 3 occur before we are born. In type 2, more of your brain goes into the spinal canal. Type 3 is the most severe. And the most deadly.Many people with type 1 have no signs. And they do not need treatment. They may never know they have it. But in some, it can cause problems. These include neck pain, vision or speech problems. You may also feel dizzy. Or have trouble with your balance. You could also have numbness in your hands or feet. Or poor hand-eye coordination.Scientists at Vanderbilt University Medical Center will use BioVU to study type 1. They will look for patients with and without type 1. Then they will look for gene changes. They will compare gene changes in the two groups. They think that some gene changes will only be in the patients with type 1. The goal of this work is to learn more about type 1 Chiari malformations. We may not learn much. But, the results will help the researchers know what to do next.

Genetics of a cancer drug

Did you know we recycle our bones? We have one group of proteins that break down bone tissue. And one group that makes bone. We try to keep a balance. But, sometimes, we break down more bone than we make. Over time, this can cause diseases. Like osteoporosis. Or rheumatoid arthritis. We diagnose osteoporosis by how thick, or dense, your bones are. Bones contain calcium. And other minerals. They help make our bones strong. When we do not make enough new bone, our bones have less minerals. Doctors call this "low bone mineral density" or low BMD. This makes our bones fragile. They may break easily. Scientists think that gene changes may play a part. We have genes that make the proteins that make bones. Other genes make the proteins that break down bones. Certain gene changes can cause proteins not to work well. Or not at all. Or they may affect the on/off switch for a gene. If we do not turn on the gene, it will not make any protein. If we do not turn it off when we should, it will make too much. Researchers at Vanderbilt University Medical Center will use BioVU to study BMD. They will look for people who do and do not have problems with BMD. Then they will look for changes in certain genes in both groups. They think there may be a problem with the on/off switch for some genes. If there is, it would throw off the balance. We may break down more bone than we make. The goal is to find out more about genes that affect BMD. Who will have problems with their bones? And who may be at risk. Their results may help us better diagnose bone diseases. They may also help us better treat them.

Cancer can affect any one. Even kids. One drug given to kids and adults with cancer can be toxic. It is a powerful drug. And we sometimes give it in high doses. It is good at killing cancer cells. But it can have side effects. These include throwing up, or an upset stomach. You might get sores in your mouth. A few people get harmful side effects, too. Like damage to the liver or kidneys. It can also lower the number of blood cells. Some side effects are part of how the drug works. But some are due to gene changes. We are all born with gene changes. Most of them do not cause problems. But some affect the way we process certain drugs. Most genes make proteins. Sometimes, gene changes affect the proteins they make. The protein may not work well. Or it may not work at all. When we take a drug, it works for a while. But then proteins in our liver process the drug. Each drug has a different group of proteins that process it. If a gene change affects one of these proteins, it may slow down how we process the drug. This means the drug stays in our body longer. Over time, if we keep taking the drug, it can build up in our body. This build up can cause harm. It can even be life-threatening. Scientists at Vanderbilt University Medical Center want to know more about a drug given for cancer. They will use BioVU to look for people who got the drug. They will look for gene changes that affect the proteins that process that drug. Then they will check if any of them had harmful side effects. They want to see if there is a link between the gene changes and harmful side effects. Their results will tell us who is at risk for these side effects. If we know you are at risk, we can lower the dose. Or we may give you a different drug. The goal is to give the right drug in the right amount to those who need it.

Genetics of sleep apnea

Finding new ways to check for diseases

Sleep apnea is a sleep disorder. It is when you stop breathing for a few seconds. And then start again. This can happen over and over. It can be serious. Signs include loud snoring. Gasping for air while you sleep. Waking up a lot at night. Or waking up with a headache The most common type of sleep apnea is obstructive sleep apnea, or OSA. With OSA, the muscles in the back of your throat relax. This causes your airway to get smaller or close when you breathe in. And the amount of oxygen in your blood goes down. When these happen, your brain wakes you up so you can reopen your airway. You wake up and go back to sleep fast. So most people do not remember waking up. We can treat OSA. The most common way is to use a CPAP machine. CPAP stands for continuous positive airway pressure. They help keep your airway open. And stop the snoring and apnea.Risk factors for OSA include smoking. Being overweight. Use of alcohol or certain sleeping pills. And other family members with OSA. Older people are also at higher risk. Scientists think that genetics may play a part in who gets OSA. Researchers at Vanderbilt University Medical Center will use BioVU to study OSA. They will look for people who do and do not have OSA. Then they will look for changes in and near genes in both groups. They hope to find a link between some of the changes and OSA. The goal is to find out more about OSA. Who will get OSA. And who may be at risk. Their results may help us better diagnose OSA. They may also help us better treat OSA.

Genetics of kidney disease

Biomarker is short for biological marker. These are molecules in blood or urine. They are also in other body fluids or tissues. They can even be microbes. Microbes are living things. They are too small to see with our eyes. We need a microscope. Bacteria are the most common. But they also include viruses and fungi. They live in the soil. In water. And in us. We have millions of microbes that live in us. And on us. We would die without them. Most are good. They help us digest our food. They help us fight disease. And keep us healthy. But some can problems. Like tooth decay. Or infections. The amount of a biomarker can tell us if someone is healthy or sick. We can measure how much is present. But sometimes, it is hard to measure the one we want. So, we use a substitute marker. One related, but easier to measure. Examples include height or white blood cell count. We can also use gene changes linked to biomarkers. We can look for gene changes. Researchers at Vanderbilt University Medical Center will use BioVU to study gene changes linked to biomarkers. They will also look for links between gene changes and a disease. They will test any new links using a different data set. The test will use the amount of biomarker and check for the disease. Their goal is to find new biomarkers linked to diseases. Their results may help us better diagnose diseases. Or help us run better tests. We may also do a better job preventing or treating some diseases.

June 2018

Genetics of white blood cells in the lining of the esophagus

Chronic kidney disease, or CKD, is when your kidneys start to slow down. In time, they won't work at all. Your kidneys filter out small particles and extra fluids from your blood. You excrete them in your urine. In CKD, they build in up your body. In the early stages of CKD, you may only have a few signs. These include nausea, throwing up, or not wanting to eat. Feeling tired and trouble sleeping are also signs. As it gets worse, your feet or ankles may swell. You may have chest pain or trouble breathing. These are from fluid building up in or around your feet, heart or lungs. You may not notice the signs until your kidneys barely work. We can treat CKD and slow down the kidney damage. But we cannot stop it yet. Diabetes and high blood pressure can cause CKD. Swelling or infections in and around the kidneys can also cause it. Other things can put us at risk. Like heart disease, smoking, or being overweight. Genetics can also play a part. We know that some gene changes can raise our risk for CKD. The more of these gene changes you have, the bigger your risk. Some groups are at higher risk for CKD than others. Like African Americans and Hispanics. Some of this is due to their high rate of diabetes and high blood pressure. But some gene changes linked to CKD may be more common in these groups. Scientists at Vanderbilt University Medical Center will use BioVU to study CKD. They will look for people with and without CKD. They will make sure to include a diverse group of people. Then they will look for gene changes linked to CKD. The goal is to learn who might be at risk for CKD. And how to better predict who is at risk. Their results may also help us find new ways to slow down CKD. Or better treat CKD.

June 2018

Gene changes linked to lung cancer

Eosinophilic Esophagitis, or EoE, is an immune system disease. Eosinophils are a type of white blood cell. Your esophagus is the tube that connects your mouth to your stomach. "Itis" means swelling. EoE happens when eosinophils buildup in the lining of your esophagus. Food or allergies may cause EoE. The buildup can injure the tissue. This can lead to problems swallowing. It can also cause food to get stuck. Heartburn or pain near the bottom or your ribcage can also be symptoms. You may also have acid coming up from your stomach. There are drugs and diets to help with EoE. One group of drugs is proton pump inhibitors, or PPIs. Prilosec and Nexium are examples. PPIs block the protein that pump acid into the stomach. But they do not work for some people. Picking which drug or diet will work for you is not easy. It costs more money to try different treatments. They can also have side effects. Doctors make decisions based on trial and error. Scientists think that gene changes may play in role in which drug or diet will work best for you. Researchers at Vanderbilt University Medical Center will use BioVU to study EoE. They will look for patients with EoE who took a PPI. Then they will see who did or did not do well on PPIs. They will look for a link between gene changes and who did not do well. The goal is to figure out if a PPI will work before we give it to you. If this works, they will do the same thing for other EoE drugs. The goal is to give you the best drug for EoE the first time. That will make you feel better faster. It may also cut down on side effects. Their results might help us find new ways to treat EoE too.

May 2018

Cancer, Lung Disease

Lung cancer is the leading cause of cancer death in the US. By more than three times any other cancer. People who smoke have a high risk of getting lung cancer. The longer you smoked, the higher the risk. But people who have never smoked can also get it. Symptoms include a cough that does not go away or gets worse. Coughing up blood. Chest pain. Feeling tired or weak. Being short of breath. Lung infections that do not go away or come back. Often, these signs do not show up until you have had lung cancer for a while. That is one reason why it kills so many people. There are two types of lung cancer. One is small cell lung cancer. Heavy smokers tend to get this type. The other is non-small cell lung cancer. This is the more common type. We are all born with gene changes. Most of these do not cause problems. But some can raise our risk for certain cancers. These gene changes can play a role in both types. Scientists at Vanderbilt University Medical Center want to know more about the first type. They will use BioVU to look for people with and without small cell lung cancer. Then, they will check if those patients have gene changes in a certain gene. They will also look for people with and without other types of cancer. Again, they will check for gene changes in the same gene. The scientists think that gene changes in this gene may make you more likely to get small cell lung cancer. Patients may get it earlier, with less smoking history than others. They may not have a family history of cancer. If this turns out to be true, it could help us. First, we could check for gene mutations early. If we know you are at risk, we can do checkups more often. The sooner you catch cancer, the better chance you can beat it. Second, we might find new ways to treat small cell lung cancer. That will help anyone with the disease. Last, we may even find a way to prevent it, or slow it down. If there is a link between the gene changes and other cancers, it could help us do the same for them too.

Genetics linked to a type of fat

May 2018

Genetics of strokes caused by a broken blood vessel

Triglycerides, or TGs, are a type of fat. They are in the foods we eat. Like butter and oils. And anything made with these. Like cakes, cookies, or fried foods. Meat and dairy also have TGs. We also make TGs if we eat more than we need. Our liver changes the extra calories into TGs. A type of cholesterol particle carries them around in our blood. And stores them in fat cells for later. Or when we need energy, from the fat cells to where they need to go. We need TGs. But too much can be bad for us.High TGs can raise our risk for heart disease. Over time, eating more than you need can cause high TGs. Smoking and drinking too much alcohol can also lead to high TGs. So can being overweight. Or taking certain medicines. Some diseases can also raise your TG levels. Gene changes can also play a part. Some can put us at risk for high TG levels. But others may lower our level of TGs.Some Black people have very low levels of TGs. This is good. Scientists at Vanderbilt University Medical Center will use BioVU to learn more. They will look for healthy Black patients with low triglyceride levels. Then they will look for gene changes. The goal is to learn more about the gene changes linked to low TGs. The gene changes may help us find a new way to treat people with high TGs.

Genetics of certain cancer drugs

A stroke is when the blood supply to part of your brain gets cut off or reduced. This means oxygen and nutrients do not get to that part of the brain. Within minutes, brain cells start to die. You want to seek treatment as fast as you can. Early treatment can reduce brain damage and possible complications. We can also prevent strokes in some cases. There are two types of strokes. One happens when a blood vessel in the brain becomes blocked. This is an ischemic stroke. Ischemic means blocked or reduced blood flow. The other is when a blood vessel in the brain breaks. This is a hemorrhagic stroke. Hemorrhagic means bleeding. Blood spills into or around the brain. Either way, strokes damage and kill brain cells. Hemorrhagic strokes are harder to treat. They cause more deaths than a stroke from a blocked blood vessel. They also happen to people earlier in life. Researchers think that genetics play a part in who is at risk for a stroke. Scientists at Vanderbilt University Medical Center will use BioVU to study both types of hemorrhagic strokes. The ones that cause bleeding in the brain and those that cause bleeding around the brain. They will look for a link between gene changes and each type of hemorrhagic stroke. The goal is to help us figure out who may be at risk for hemorrhagic stroke. Their results may help us find a way to stop them from happening. They could also help us find new ways to treat these strokes.

Genetics of group of proteins.

Many cancer drugs kill both healthy cells and cancer cells. They kill any cell that grows fast. Hair producing cells, skin cells, and cells that line your stomach all grow fast. This can cause side effects. The drugs can make you sick to your stomach. Your hair may fall out. You might feel tired, or weak, or both. We have new drugs for some cancers now. They kill more cancer cells and less healthy cells. But you may still have some side effects. Two main things determine what side effects you might get. One is how long you are on the drug. Some drugs stay in our bodies longer than others. Over time, this can cause the amount of the drug in our bodies to rise. When this happens, the side effects can get worse. They can be so bad we have to stop giving you the drug. This makes it harder to fight the cancer. The other is changes in our genes. These are changes we are born with. Some gene changes affect the proteins they make. Proteins process everything we eat. They also process any drugs that we take. If the proteins that process cancer drugs do not work well, this can also cause side effects. Again, this can limit how long you can be on the drug. It also affects how we can fight the cancer. Scientists at Vanderbilt University Medical Center will use BioVU to study one side effect of a class of cancer drugs. They will look for people taking the drugs. They will check who has and does not have the side effect. Then they will look for gene changes in the group who have that side effect. They want to figure out who might be at risk for the side effect. If we know who is at risk before we give the drug, we can give you a different drug to fight the cancer. The goal is give you the best drug to fight the cancer, with the least side effects.

Genetics of a heart valve disease

Anemia is when you do not have enough iron in your blood. Iron helps carry oxygen in red blood cells. We have simple lab tests to check how much iron is in our blood. Signs of anemia are shortness of breath. Feeling tired. Headache. Or feeling dizzy or fainting. It is often short lived. But it can be a long term problem. Some diseases can cause anemia. They may lower our number of red blood cells. Or stop us from making more. If you do not eat enough foods with iron in them, it can cause anemia. Gene changes can play a role in low iron too. These gene changes may affect the proteins they make. Or how much of a certain protein we make. Scientists at Vanderbilt University Medical Center will use BioVU to study anemia. They will look for people with and without low iron. Then they will look for gene changes. Both gene changes that affect the protein they make. And those that may affect how much of a protein we make. Then they will look for patients with those gene changes. They will see what other things the patients may have. They may have side effects from certain drugs. Or they may have other diseases. The scientists want to find out if there is a link between the gene changes and these other things too. The goal is to learn more about the role of these gene changes. They want to find out how they link to low iron. And if they link to any other problems. Like side effects from a certain type of drug. Or a different disease. The more we learn, the better we can help treat our patients. We may find new ways to help people with low iron. Or a new way to treat a disease.

Genetics to stop organ rejection

Our hearts have 4 sections, or chambers. The top two take in blood. The bottom two pump blood out. Blood goes through valves as it goes in and out of each chamber. The valves make sure blood only flows one way. The bottom left chamber pumps blood to your body. It leaves the heart through the aorta. A one way valve makes sure no blood comes back into the heart. This is the aortic valve.Calcific aortic valve disease, or CAVD, affects that valve. Over time, wear and tear can take its toll. Calcium can build up in the valve. CAVD can be mild. The valve gets thick, but it still works ok. Or it can get stiff and not open or close all the way. If it does not open right, it makes it harder for your heat to pump blood to your body. If it cannot close all the way, blood can flow back into your heart. Both can cause problems. Age is a factor. Not everyone will get CAVD. Younger people can also get it. A genetic disease that affect this heart valve can lead to it. Or if your kidneys stop working. Other gene changes may also play a part. Some gene changes can raise your risk for getting CAVD. Others may lower your risk.Scientists at Vanderbilt University Medical Center will use BioVU to study CAVD. They will look for people who do and do not have CAVD. Then they will look for gene changes in both groups. Then they also will look at patients with the genetic valve disease. They think that changes in one or more genes may lower our risk for CAVD. They want to find out who is or is not at risk for CAVD. The sooner we know if you are at risk, the sooner we can start to help. We want to slow down or even stop any changes to your heart valves. We want to keep your heart strong and healthy.

Genetics of your heart beat

We have 5 organs that have to work for us to live. They are our brain, which is our "control center." Our heart, which pumps our blood. Our lungs, which help us take in oxygen and breathe out carbon dioxide. Our kidneys, which filter out waste products and extra fluid from our blood. And our liver, which processes the contents of our blood. We can replace all these if they stop working. Except your brain. That one we cannot replace. We have 73 other organs too. Such as our stomach, intestines, bladder, and spleen. And lots more. Some people are born with heart defects. Or problems that affect their liver. Diseases can cause damage to our organs. Diabetes can damage our kidneys, heart and eyes. Cystic fibrosis damages our lungs and the organs in our digestive system. Some infections can damage our heart, kidneys, liver or lungs. Behaviors like smoking can damage our heart and lungs. We can live without most organs if they do not work. Like our appendix. Or our eyes. But not the key organs. If one of these organs is not working, we try to find you a new one. Children and adults may need new organs. But your body will not be used to the new organ. So we give you drugs to stop your body from not wanting, or rejecting, it. The most common drug is tacrolimus (tah-crow-LEE-muss). But this drug is hard for some people to process. We know that genetics plays a big part. We are all born with gene changes. Most of them do not cause problems. But some affect the way we process certain drugs. Most genes make proteins. Sometimes, gene changes affect the proteins they make. The protein may work ok. Or it might not work as well. Or we may make more of a protein. These changes can affect how we process drugs. You may need more of a drug. Or less. Or a different drug. If you cannot process the normal dose of a drug, you may have side effects too. Our age and body weight also factor into how much drug we should take.Scientists at Vanderbilt University Medical Center will use BioVU to study tacrolimus in children. They will look for patients who got tacrolimus. Then they will look for changes in the genes linked to how we process the drug. They will compare the data from adults and children. Their goal is to learn how certain gene changes affect the dose we give you. They also want to find out who may be at risk for rejecting an organ. They want to find a way to give you the right dose from the start. No matter what age you are. They will also look for patients who had problems after their transplant. Like kidney damage. Or infections. They want to find out who may be at risk for these problems. Their results may help us prevent these problems for future patients.

Links between genes and diseases

Our hearts have 4 sections. The top 2 get blood. The bottom 2 push blood out. The right side deals with blood that needs oxygen. The left side with blood that has oxygen. Electrical pulses control the timing of all this. They control the rhythm of our heart. And how fast our heart beats. An electrocardiogram, or ECG, is a record of our heartbeat. It records all the electrical pulses of our heart. This is the heartbeat you can see. On a screen. Or a strip of paper. It look like waves. There are three main "waves." A little one. Then a big "spike." Then one more little one. The last one is more stretched out than the first. It is also a little taller. Each part of an ECG gets a letter. The first wave, P, is when the heart pushes blood from the top sections to the bottom. The second wave is 3 short waves. There is a little dip down. This is the Q wave. This happens when the heart is getting ready to push blood out. The R wave is the "spike." It is when the heart pumps blood out. The spike is tall because it takes a lot to push blood out. It is skinny because this happens fast. The S wave is also a dip. It is right after the heart pumps out the blood. These three make up the "QRS" wave. The last wave is T. It is when the bottom sections reset. They set back up for the next time they need to pump. The QT interval is the distance between the start of the QRS wave to the end of T wave. It is the time from the bottom sections getting ready to pump, Q, to when they have reset. That is the end of the T wave. The QT interval tells us if the bottom sections of your heart are working well. Or if you might have a problem. Lots of things can change your QT interval. Certain drugs can affect it. Low levels of potassium. High blood pressure. Other types of heart disease. Genetics can also play a part. Most of these make it longer. Scientists at Vanderbilt University Medical Center will use BioVU to study the QT interval. They will look for people who are healthy. And are not taking any drugs that might change their ECG. Then they will look for gene changes. We know some gene changes affect your QT interval. They will compare what they find to what we know. They want to find out who is at risk for changes in their QT interval. They will also factor in age and gender. They will compare the gene change risk to the risk from other things. Like lab tests, lifestyle, and past medical history. The sooner we know if you are at risk, the sooner we can start to help. We want to delay or even stop any changes to your heartbeat. We want to keep your heartbeat strong and steady.

March 2018

Genetics of healthy people

Most diseases are complex. Diabetes, high blood pressure and heart disease are examples. These diseases can also lead to other problems. For instance, high blood pressure that is not kept under control can cause kidney disease, stroke, or a heart attack. Many small things add up to cause these diseases. Gene changes you are born with often play a role. Your environment, like the air you breathe, your diet, or how much exercise you get can also factor in. Complex diseases are the biggest cause of our health burden in the U.S. We want to learn more about complex diseases. Scientists at Vanderbilt University Medical Center will focus on gene changes. They will use BioVU and other resources to check for links between gene changes and diseases. They will try to improve how we find these links too. The goal is to better predict who might be at risk for certain conditions. Then, we could do a better job of catching them early. We may even be able to delay or prevent the disease. These results could also help us find better ways to treat these diseases.

March 2018

Biomarker is short for biological marker. These are molecules in blood, urine or other body fluids or tissues. We can measure how much is present. The amount of a biomarker can tell us if someone is healthy or sick. Sometimes, it is hard to measure the one we want. So, we use a surrogate, or substitute, marker. One that is related, but easier to measure. Examples include height or white blood cell count. Gene changes found in lots of people can affect biomarkers. They can also affect surrogate biomarkers. These are gene changes we get from our parents. Most of them do not cause any problems. One or more gene changes could make us a little taller. Other gene changes could make someone else shorter. But short people are often at higher risk for heart disease than tall people. So some doctors may use height as a way to measure risk of heart disease. Researchers at Vanderbilt University Medical Center will use BioVU to study surrogate biomarkers. They will look for gene changes linked to surrogate biomarkers. They will also look for a link between the gene change and a disease, or lack of disease. The goal is to make sure the surrogate biomarkers are a good substitute when testing for a disease risk. Take our height example above. There may not be a link between a gene change that makes someone shorter and some types of heart disease. If this is the case, height would not be a good surrogate biomarker for those types of heart disease. We want to know more about how gene changes affect biomarkers and disease. This will help us better diagnose diseases. We can run better tests. We may also do a better job preventing or treating some diseases.

Genetics of obesity

March 2018

Genetics of Preterm births

Obesity means having excess body fat. More than being overweight. The number one cause is eating too much. Not being active is number two. Genetics may also play a part. Obesity puts you at risk for health problems. Like heart disease. Diabetes. And high blood pressure. The good news is we can reverse these by losing weight. Changing our diet and exercise will help. Diet drugs from a doctor can also help. There is also weight-loss surgery. We use body mass index, or BMI, as a way to tell who is obese. Your weight and height determine your BMI. It gives us an idea how close you are to a healthy weight. This range is 18.5 to 25. Less than 18.5 is underweight. That can lead to problems too. BMI between 25 and 30 is overweight. A BMI above 30 is obese. About 2 in 5 Americans are obese. Scientists at Vanderbilt University Medical Center will use BioVU to study obesity. They will look for people who have a BMI over 30. They will then split them into groups. People with heart disease would be one group. People with BMI over 40 may be another. They will work on a formula to help figure out the groups. They will share this formula with others. They will also look for gene changes in people who do and do not have a BMI over 30. They will do this for each group. For example, they may look for people with heart disease. They will compare gene changes in those who have a BMI over 30 with those under 30. The result will be gene changes only linked to obesity. They will also look for gene changes in certain genes we know link to obesity. Last, they will look for new links between diseases and obesity. The goal is to learn who is at risk for obesity. And for which diseases obese people may be at risk. If we know who is at risk, we can try to reduce their risk for disease. Or not gain too much weight. We may also find new ways to help people lose weight. And keep it off.

Links between family history genes and diseases

Babies born any time after 37 weeks of pregnancy are "full term." A "preterm" baby is born before 37 weeks. Preterm births are the leading cause of new born death world-wide. But, we do not know much about why this is. Doctors may induce labor for the safety of the baby or the mother. But most of the time, preterm births just happen. There is no warning. This makes it hard to treat. Scientists know that genes and gene changes play a role. Almost half of what causes babies to come early is due to genetics. But, finding out which genes or gene changes play a part is hard. We know some, but there is more to discover. Scientists at Vanderbilt University Medical Center will use BioVU to study preterm births. First, they will look for women who have had preterm babies. They will separate women who had other reasons for having a baby early from those who did not. Then they will look for a link between certain genes or gene changes and these preterm births. All this data will help them find a "genetic risk score." That will help them figure out who might be at risk for having a preterm birth. Their results may help us find a way to treat women at risk. The goal is to reduce new born deaths. This might be to help babies be stronger who are born early. Or finding a way to stop them being born early.

Drug and Gene Interactions, Other

Certain groups are more likely to get some diseases than other groups. We all have gene changes we get from our parents. Some we can trace back for generations. They are common in many people of the same race. Some gene changes are good. Some of them can make us more likely to get a disease. For example, African Americans have the highest rate of high blood pressure. Chinese women are at higher risk for lung cancer compared with other groups. But Latinos are less likely to get breast cancer. When you go to the doctor, they often ask you about your family history. They might also ask you with which race you identify. Or, someone from your doctor's office or hospital might determine your race. You might have different races in your family history. You may identify as one race. But your genes will be a mixture of all the races in your family tree. Our genes can determine which drug will work best for us. Or if we are at a higher or lower risk for a disease. Scientists at Vanderbilt University Medical Center will look at how our family history affects our drug response or disease risk. They will use other resources to link common gene changes to disease risk too. This could help us learn in what part of the world certain diseases first started. It might also help us learn if our recent family history puts us at higher or lower risk for certain diseases. The goal is to learn more about gene changes. The more we know about gene changes, the better job we can do treating our patients.

Checking to see if genetic risk scores work well

We get gene changes we get from our parents. Most of them do not cause any problems. But some might cause a disease. Others may only cause a tiny change. Some diseases are simple. One gene change can cause the disease. Sickle cell is an example. But other diseases are not simple. Like heart disease. Each gene change may play a small part. These still do not add up to the disease. But they might increase our risk for getting the disease. Other things, like your diet or if you work out also factor in. Scientists think that if we have more gene changes in a disease pathway, we are at higher risk. Researchers at Vanderbilt University Medical Center will use BioVU to study this. They will look for gene changes linked to different diseases. Heart disease, stroke, and type 2 diabetes are some of the diseases they will study. They will try to figure out which groups of gene changes increase our risk for each disease. They will also look for the gene changes that most put us at risk. They will check how many patients in BioVU are at high risk for each disease. The goal is to figure out if knowing our gene changes can help us reduce our risk. We may be able to do something to prevent the disease. If you know you are at high risk for lung cancer, you might think twice before smoking. Scientists may be able to create new treatments to reduce our risk. Or to better manage the disease if we get it. Their results could help us live longer, healthier lives.

Genetics of COPD

Genetics of human papillomavirus (HPV)

Chronic Obstructive Pulmonary Disease, or COPD, is a lung disease. It makes it hard to breathe. Coughing, extra mucus in the lungs, and wheezing are all symptoms. Long-term exposure to toxic gases or tiny particles leads to COPD. Cigarette smoke contains both. So does smoke from cigars or fires. These can destroy the tiny air sacs in the lungs. Bronchitis is inflammation of the airways in your lungs. When it lasts for more than 3 months, we call it chronic. Chronic means it lasts for a long time, or keeps coming back. Chronic bronchitis can also lead to COPD. People who have COPD are at higher risk for lung cancer, heart disease and other conditions. But COPD is treatable. People with COPD can manage their symptoms and live a normal life. There are different ways to diagnose COPD. Also, it is not always diagnosed right. This does not make it easy for scientists to study COPD. So, researchers at Vanderbilt University Medical Center will work on a better way to get COPD information from medical records. They will work on a "formula" for figuring out who has COPD. They will test this with BioVU. The goal is to make it easier for scientists to get the right information for their research. This will also make it easier to study gene changes linked to COPD. Their research results will be better because we will know who has COPD and who does not. Their new "formula" will help us learn more about who may be at risk for COPD.

Human papillomavirus, or HPV, is a sexually transmitted disease. There are different types of HPV. In most cases, HPV goes away on its own. It does not cause any health issues. But, some types can cause health problems. Like genital warts or cancers. A vaccine when you are young can stop you from getting HPV. HPV can cause cervical cancer. It can also cause cancer of the vagina, penis, anus, or throat. Once you get HPV, it can take years for cancer to develop. Other things may play a role in your health. Things like how much money, or education you have. Where you live. Your community. Do you get enough healthy food to eat? Your job. If you have access to health care. For example, in the US, more people in the South have cervical cancer caused by HPV. More people die from it in this region too. Your behaviors can also play a part. Do you smoke? Do you exercise? Your diet. Do you drink or do drugs? How many sex partners you have had. Even if you wash your hands when you should. For HPV, the more sex partners, the more likely you are to get it. Gene changes may play a role in who is at risk for HPV cancers. Gene changes may be more common in some groups. For example, BRCA1 is a gene. Certain gene changes in BRCA1 can raise your risk for breast cancer. These changes are more common in Ashkenazi Jews. But they are present in every population. Being Ashkenazi Jewish does not increase your risk. Having the gene change increases your risk. Gene changes may also affect how fast the cancer grows. Or what drug or treatment will work best for you. Or even how long you will survive. Researchers at Vanderbilt University Medical Center will use BioVU to study cervical cancer from HPV. They will check for gene changes linked to HPV cancers. They will look for people with cervical cancer caused by HPV. Then they will look for gene changes in that group. They will see if gene changes are more common in any one group of people. They will also check if certain behaviors link to HPV. The goal is to find out what puts people at risk for HPV cancers. They hope to predict who might be at risk for cervical cancer from HPV. Their results may help us better treat this cancer. Or even prevent it. The results might help us learn more about other cancers caused by HPV too.

Genetics of suicide risk

January 2018

Genetic risk of abnormal heart shape and function

If you or anyone you know are in crisis, please call the National Suicide Prevention Lifeline at 1-800-273-TALK (8255). Or, contact the Crisis Text Line by texting TALK to 741741. If you are in danger of acting on suicidal thoughts or are in any other life-threatening crisis, please call emergency services in your area (9-1-1 in the U.S.) or go to your nearest hospital emergency room. Suicide is one of the top 10 causes of death in the US. There is no one reason why. People may take their life if they feel there is no hope. But it is not always clear to the people around them they feel this way. Depression can be a risk factor. But it often goes undiagnosed or untreated. Taking drugs and stress can raise your risk. Trauma, neglect, and any kind of abuse also can put you at risk. But in the end, no one can know for sure the reason someone decides to take their life. Scientists do not understand much about suicide either. There are lots of questions to which we do not know the answer. Genetics might play a role in who is at risk. There may be other signs we are missing. Researchers at Vanderbilt University Medical Center will use BioVU to look for answers. They will look for patients who have thought about or tried to kill themselves. They will also include people who took their own life. They will look for gene changes in these patients. They will also look for other clues in their medical records. Things that we may not have noticed before. They hope to find new signs of suicide risk. This could be one or more gene changes. It could also be something else. No matter what, we want to find ways to help people before it is too late.

January 2018

Genetics of opioid problems

A child's heart is about the size of a fist. An adult heart is about the size of two fists. It has 4 chambers, or sections. One way valves between them control the flow of blood. The shape of these sections and valves is about the same in everyone. But, sometimes, a disease or condition can cause shape changes. High blood pressure can cause one of the chamber's walls to get thick. It can change the way our heart works. This can put you at risk for a heart attack or stroke. We may also be born with a shape change in our heart. Some of these we may never notice. But others may cause a disease. Some people are born with a valve that doesn't open and close right. This can cause a type of heart disease. Doctors have to fix some of these right away. Other valve issues may take most of our life before they cause any problems. Gene changes can also play a role. Some raise our risk for getting certain diseases. Both the kind that causes heart defects. And the kind that cause other diseases that lead to changes in our heart. Scientists at Vanderbilt University Medical Center want to know more about both. They will use BioVU to study gene changes that affect the heart. They found some gene changes linked to heart shape changes. They will use BioVU to double check those. Then, they will check if these same gene changes link to heart diseases. They will also look for other diseases linked to the gene changes. The goal is to learn more about gene changes that affect the shape of the heart. Both those that cause heart defects. And those that may put us at risk for diseases that can affect our heart. They hope to predict who might be at risk for heart changes. Their results might help us better treat patients with heart changes. Or better manage diseases that can cause heart shape changes.

December 2017

Genetics of problems that require a lot of nurse care

Opioids are a class of drugs given for pain. They are powerful. And addictive. Legal opioids include morphine and oxycodone. Heroin is also an opioid. But it is illegal. These drugs can have side effects. They include nausea, throwing up and trouble going to the bathroom. They can make you feel sleepy, or dizzy. But they can also lower your heart rate. And slow down your breathing. If you take too much, you could die. Patients often get opioid drugs after surgery. In the US, opioid addiction is on the rise. Genetics may play a part in the side effects you get. Scientists think there is a link between a few gene changes and side effects. Scientists at Vanderbilt University Medical Center will use BioVU to study opioid side effects. They will look for people who got opioids in the hospital after surgery. They will pick about half these patients. They will see who did and did not get side effects. They will focus on patients whose breathing did or did not slow down. And if they had trouble going to the bathroom. Then they will look for gene changes in these patients. They hope to find the same gene changes the other scientists found. They also hope to find new gene changes. Then they will check the other half of the patients that got opioids. They will see if they find the same results. This will help them know they got the right gene changes. The goal is to learn who is at risk for side effects from opioid drugs. This will help us best treat the pain of our patients in the hospital. We may also learn who will not get side effects. That could increase their risk for addiction.

Gene changes linked to lung cancer

No one likes to be in the hospital. But, sometimes, we cannot avoid it. If you are in the hospital for more than a few days, you are at risk for certain things. For example, if you are stuck in a bed or chair the whole time, you could get a bedsore. Bedsores are skin injuries caused by the weight of our bodies. They happen where we have a bone close to the skin. Like part of our backbone, or tailbone. They can also happen on our shoulder blades. Or elbows, ankles, heels, and hips. Nurses try to help. They "turn" us every few hours so we are not in one position for too long. But sometimes, bedsores still happen. Other things can happen, too. Pain drugs may make you breathe slower. You could also get an infection from a wound that is not healing. Nurses try to watch out for these signs before it gets too bad. But, like bedsores, sometimes things still get worse. Even if nurses do everything right, bad things can still happen. Scientists think that genetics may play a role. Researchers at Vanderbilt University Medical Center will use BioVU to study these problems. They will look for people who did and did not get bedsores. Then they will look for gene changes in those patients. They will check for a link between gene changes and bedsores. Then they will look for patients who got drugs to help with their pain. They will see who did ok, and whose breathing slowed down. Again, they will look for gene changes and check for a link to slowed breathing. They will do the same process for people who got really sick from a wound that did not heal. The goal is to check if gene changes put you at risk for any of these things. Say you are at risk for slowed breathing from certain pain drugs. We could give you a different kind of pain drug. If you are at risk for an infection from a wound, we could give you a stronger drug to fight off the infection. We do not want to add problems when you are with us. We want to make sure no one has to be in the hospital longer than they have to.

Looking for new gene-disease links

Cancer, Lung Disease

Lung cancer is the leading cause of cancer death in the US. By more than three times any other cancer. People who smoke have a high risk of getting lung cancer. The longer you smoked, the higher the risk. But people who have never smoked can also get it. Symptoms include a cough that does not go away or gets worse. Coughing up blood. Chest pain. Feeling tired or weak. Being short of breath. Lung infections that do not go away or come back. Often, these signs do not show up until you have had lung cancer for a while. That is one reason why it kills so many people. There are two types of lung cancer. One is small cell lung cancer. Heavy smokers tend to get this type. The other is non-small cell lung cancer. This is the more common type. We are all born with gene changes. Most of these do not cause problems. But some can raise our risk for certain cancers. These gene changes can play a role in both types. Scientists at Vanderbilt University Medical Center want to know more about the first type. They will use BioVU to look for people with and without small cell lung cancer. Then, they will check if those patients have gene changes in a certain gene. They will also look for people with and without other types of cancer. Again, they will check for gene changes in the same gene. The scientists think that gene changes in this gene may make you more likely to get small cell lung cancer. Patients may get it earlier, with less smoking history than others. They may not have a family history of cancer. If this turns out to be true, it could help us. First, we could check for gene mutations early. If we know you are at risk, we can do checkups more often. The sooner you catch cancer, the better chance you can beat it. Second, we might find new ways to treat small cell lung cancer. That will help anyone with the disease. Last, we may even find a way to prevent it, or slow it down. If there is a link between the gene changes and other cancers, it could help us do the same for them too.

Genetics of Iron and a form of high blood pressure

We are all born with gene changes. We get them from our parents. Most of them do not cause any problems. These gene changes are in all our cells. Most of these gene changes are tiny. They involve one change in a gene. Like a typo in a recipe. Most of the time, we can tell what a word is, even with a typo. But some gene changes are big. We may be missing part or all of a gene. Or more than one gene. This is like missing a whole sentence, or even a whole page. We may also have extra copies of one or more genes. The term for these bigger changes is copy number variation, or CNV. These often show up as something we can see. It may be a disease. Or it might affect the way we look, or think. Hemophilia is a blood clotting disease. Some people with this disease are missing a gene that makes a protein that helps clot your blood. Another example of a CNV is people with Down Syndrome. They have an extra copy of chromosome 21. While we know about some CNVs, there are lots we do not know. Scientists at Vanderbilt University Medical Center will use BioVU to study CNVs. They will look for any CNVs in BioVU. They will write down any links between CNVs and any diseases. They will also compare their notes to other studies. Sometimes the "typo" gene changes can cause the proteins they make not to work. These can also cause diseases. If someone is missing part or all of that same gene, they will be missing that protein. We expect both of these cases to have the same effect. And result in the same, or similar, disease. Last, they will use their results to help predict who might have a CNV based on things we can see. Their results will help us learn a lot more about CNVs. They will also share their results for other researchers to use. Their work could help us better treat some diseases. It might even help us prevent or delay some conditions.

Genetics of drugs for mental disorders

Pulmonary Arterial Hypertension, or PAH is a type of high blood pressure in our lungs. It also affects the right side of our heart. The right side of the heart pumps blood that needs oxygen to the lungs. In our lungs, it affects the arteries. These are the blood vessels carry the blood from our heart to our lungs. In PAH, the arteries become smaller, or blocked. They can also get destroyed. This causes pressure to builds up. When this happens, the right side of your heart has to work harder to pump blood through your lungs. Over time, his causes your heart muscle to get weak or fail. There is no cure for PAH. But, we can treat it. Gene changes we are born with can lead to PAH. Diet drugs and illegal drugs can cause PAH. Other heart conditions can also cause PAH. Symptoms of PAH include shortness of breath. Feeling tired. Feeling dizzy or fainting. Swelling in your ankles and legs. Short periods of fast heart beats for no reason. The first three of these are also signs of anemia. That is when you do not have enough iron in your blood. Iron helps carry oxygen in red blood cells. We have simple lab tests to check how much iron is in our blood. Gene changes can play a role in low iron too. Scientists think that there might be a link between low iron and risk for PAH. They will use BioVU to look for people with low iron. They will check for gene changes linked to low iron. They will also check if any of these patients are at risk for or have PAH. In patients with PAH, they will see if the gene changes affected how well we could treat it. The goal is to learn how gene changes affect iron levels in our blood. And our risk for PAH. And if these overlap. Their results could help us better treat both. We may also be able to tell who might be at risk for PAH. This could help us prevent it, or slow it down.

Doctors prescribe drugs for a lot of reasons. Some we take for a short time. Like those that help us fight an infection. We may need to take other drugs longer. Like those that help us deal with depression, or high blood pressure. Drugs can have side effects. Some happen no matter what. They are part of the action of the drug. Others may happen because we do not process the drug well. This can also cause side effects. It can also cause the drug not to work well for us. Researchers at Vanderbilt University Medical Center will use BioVU to study two mental disorders. One is schizophrenia. This is a disease which affects how you think, feel and acts. It makes it hard to figure out what is real and what is imaginary. People with schizophrenia need lifelong treatment. Doctors may try different drugs in different doses or combinations to find what works best. Clozapine is a drug that treats schizophrenia. Doctors give this drug when other drugs do not work well. Depression can also affect how you think, feel, and act. You may have a hard time wanting to do the things you do every day. You may also feel like life is not worth living. It is not something you can "snap out of." Depression may need long term treatment. But most people feel better with the right drug and/or therapy. If nothing seems to be working, some people try electroconvulsive therapy, or ECT. ECT is much safer today than it used to be. Researchers will use BioVU to try to learn why other drugs did not work to treat these two disorders. They will look for gene changes linked to drugs that did not work well. Their goal is to figure out if we can help give people the right drug the first time. This can improve symptoms faster with less side effects. Their results might also help us find new treatments.

Genetics of inflammation

Genetic links in families

Inflammation is when a part of the body swells, gets red, hot, and is often painful. Injury and infection are common causes. Like a sprained ankle. Or strep throat. There are also many inflammatory diseases. Rheumatoid arthritis, or RA, and lupus are examples. There is a link between many of these diseases and other things. RA can put you at risk for obesity, smoking, heart attacks, and high blood pressure. In the same way, one gene change can cause conditions that can seem unrelated. Researchers at Vanderbilt University Medical Center will use BioVU to study inflammatory diseases. First, they will get gene change data from trusted sources. They will check each one for a link to a disease. Or to the risk of getting a disease.. More than one gene change can predict risk or a disease. So, they will create a "risk score" for each. Then they will use BioVU to check these links. They will also see if there is a link between the gene changes and risk for other diseases. Their goal is to learn more about inflammatory diseases. They hope to better predict who is at risk for other diseases too. Their results may help us better treat diseases like lupus or RA. They could also help us lower our risk for getting other conditions.

Human DNA comes in the form of 23 pairs of chromosomes. We get one set from our mom. The other from dad. Our children will get one set of their DNA from us. But before we package it into eggs or sperm, it gets mixed together. To see how this works, look at the picture below. First, we line up each pair of chromosomes. In the picture, we line up chromosome 18 (A). Then, we swap segments (B). This mixes the DNA we get from our parents. That way, we pass along information in our DNA from both our parents to our children (C). Each time we make an egg or sperm cell, we get a different mix. Unless we are an identical twin, we only have part of our DNA in common with our siblings. We also share part of our DNA in common with our grandparents. And cousins. The more distant the relative, the less DNA we have in common. But we still have some parts in common. In DNA biobanks, like BioVU, there are family members included. We use biobanks to study links between DNA and diseases. Sometimes, we need to study unrelated people. If we include related people, it makes it harder to find a true link. But we also use biobanks to learn about different groups of people. So we might want to keep everyone who has segments of their DNA in common. Whether they are related or not. Scientists at Vanderbilt University Medical Center have a way to find related people in biobanks. They will use BioVU to look for people who share DNA in common. The will use their formulas to figure out if people are related. They will share their data with others. This will help everyone who uses BioVU. They will also look for links between the segments of DNA and diseases. We know that groups of people have segments of DNA in common. In the picture above, the Mom and Dad chromosomes are two colors. But, some of the segments might be the same. They might look more like this: The green are segments they have in common. The top green segments might be something everyone in the same population has in common. Like eye shape and color. Or skin color. Or hair type. These are "in general." Each of these will vary within populations. And there will be exceptions. The bottom green segments might be common to people from the same country. My parents are both British. So the bottom green might be common to all British people. We can use BioVU to check if any green segments link to risk for a disease. Within the green parts, there might be gene changes. It is the gene changes that put us at risk for a disease. Not everyone will have those gene changes. But they may be more common in some groups than others.

Genetics of lupus

Gene changes linked to heart problems and hip fractures

Lupus is an autoimmune disease. Your body's immune, or defense, system attacks your own tissues and organs. This often causes swelling which affects your joints. It can also affect your skin, kidneys, blood cells, brain, heart and lungs. The most common symptom is a rash that covers your nose and cheeks. Others include feeling tired, fever, or joint pain. Lupus can be hard to diagnose. At first, it can look like other diseases. Plus, no two cases of lupus are alike. In some people, the signs and symptoms may come on fast. In others, it might take several years. Lupus can be mild or severe. Scientists think that genetics may play a part in what kind you get. We know there is a link between some gene changes and lupus. But there is a lot we do not know. Except there is no cure right now. Researchers at Vanderbilt University Medical Center will use BioVU to study lupus. First, they will look for people with lupus. Then they will check if they have gene changes linked to lupus. In a separate study, they will group the lupus patients in different ways. They may group them by age, sex, race or ethnic background, lab results or genetics. They will also look at outcomes. These include time to diagnosis, how severe is the lupus, what drugs they got to help them, and more. Their goal is to learn more about lupus. If there is a link between certain gene changes and different forms of lupus. Or a link between the gene changes and what treatments work best. Their results may help us diagnose lupus faster. Or do a better job treating different forms of lupus. It might even help us find new ways to treat lupus.

Genetics of drowsiness in the Intensive Care Unit (ICU)

As we get older, we are at risk for certain conditions. Heart failure, or HF, is when the heart does not pump blood as well as it should. Heart failure can put us at risk for a heart attack. This is when blood flow to the heart stops. Some causes of HF are high blood pressure, diabetes, and being overweight.. Over time, these can make your heart weak or stiff. A weak or stiff heart does not work as well. Fat and cholesterol build up in the arteries of the heart can also cause HF. If the buildup blocks the arteries of the heart, it can cause a heart attack. The good news is we have treatments for HF that can help. You can also help by exercising, losing weight, cutting down on salt in your diet, and reducing stress. But, there is still no cure. As we age, our bones tend to get weaker. Hip fractures often happen in older people. Falls are the most common cause of hip fractures. Taking medications, balance issues, and poor vision can all make us more likely to fall. Scientists think changes in certain genes may increase your risk for these conditions. Researchers at Vanderbilt will use BioVU to look for patients with these gene changes. Then they will check for links between the gene changes and heart failure. They will also check for links to heart attacks and hip fractures. Finally, they will see if there are links to related conditions. The goal is to learn more about the gene changes. We also hope to learn more about the causes of HF and hip fractures. Their results may help us reduce the risk for getting these conditions. We may also be able to find new treatments.

Brain and Nerve Disease, Other

Delirium describes a state of confusion. People with delirium cannot think clearly. They have a hard time paying attention. They may not understand what is going on around them. They may also see or hear things that are not there. People who are in the hospital sometimes get delirium. Two out of three patients in the intensive care unit, or ICU, get delirium. Experts think that a change in the way the brain works may cause delirium. Many things may change the way the brain works. These include less oxygen to the brain, severe pain, infections and certain medications. Alcohol, pain killers, or drugs that make you sleepy can affect the brain. Withdrawal from any of these drugs may also change how the brain works. Delirium is different from dementia. It often comes on in hours or days. It does not last long, a few days to a week. It is also temporary. Dementia often develops over months or years. And it is permanent. People who have dementia may also get delirium. But, delirium does not cause dementia. Scientists think that gene changes may play a role in who is at risk for getting delirium. We are born with these gene changes. We all have gene changes. It is what makes us unique. Researchers at Vanderbilt will use BioVU to see if certain genes affect who gets delirium. They will find patients who were in the ICU. They will look for patients who did and did not get delirium. Then they will for a link between the gene changes and delirium. The goal is to learn more about the gene changes and who might get delirium. Their results may help us know who is at risk for delirium. We hope it will also help us better understand delirium.

Genetics of a group of immune proteins

Genetics of drug metabolism in children

The immune system is our defense system. Lots of different proteins make up this system. Together, they help protect us from things that can make us sick. Some proteins fight infections. Others prevent bacteria from making us sick. One group of proteins works to protect us from certain types of viruses. Viruses have genetic material. Some viruses make a DNA copy of their genetic material. And then put it into our DNA. This can make us sick. But our group of proteins can edit copies of the viral DNA. The viruses cannot put the edited version into our DNA. But, these same proteins can also cause problems. If they edit our DNA by mistake, they cause changes. The changes are often fixed by other proteins. If they are not fixed, they could cause a disease. Like cancer. We found changes in certain genes linked to breast cancers. Researchers at Vanderbilt University Medical Center will use BioVU to study the gene changes. They will look for patients who have the gene changes. Then they will check for a link between the gene changes and diseases. The goal is to learn more about the gene changes. And about the diseases they might cause. Their results may help us find better ways to treat these diseases.

June 2017

Process of DADA2, a genetic disease

Scientists know that some gene changes can affect the way we process certain drugs. Sometimes, the gene changes mean we need more of less of a drug. Other times it means a drug will not work for us. If we do not take the right amount of a drug for us, we often have side effects. A drug not working can also lead to side effects. We do most drug research on adults. We work out what dose range is safe in adults. Then we work out the best dose to give adults. Most of time, we have to make an educated guess at what amount to give children. Researchers at Vanderbilt will use BioVU to see how certain genes affect drugs in children. They will start with a well-studied gene. This gene processes several different drugs. They will focus on two drugs taken by kids and adults. One drug can cause side effects in the wrong amount. They will look for a link between gene changes and side effects in kids taking that drug. We adjust the dose of the other drug based on how you respond. We know gene changes can affect the dose of this drug. Other things can also affect the dose. Researchers will look for a link between gene changes and the final dose given to kids.They will then look at gene changes that affect a different drug. They will look for a link between the gene changes and side effects in kids taking that drug. We will learn more about gene changes and drug doses in children from this research. Their results may help us start at a better dose for some drugs in children. They will also help us better understand side effects of these drugs. We may also learn more about how gene changes may affect adults. The goal is to give children and adults the right dose of the right drug every time.

June 2017

Genetics of blood clots during pregnancy

We all have two copies of every gene. We get one from each parent. Sometimes, the genes we get from our parents have changes in them. Some changes can be good. They can improve the proteins they make. Other changes may cause the protein not to work well, or at all. ADA2 is a gene. It makes the adenosine deaminase 2 protein. Certain changes in the ADA2 gene can be harmful to the protein it makes. It can cause it not to work well. This may result in a disorder known as deficiency in adenosine deaminase 2, or DADA2. In DADA2, each copy of this gene from your parents has harmful changes. Not everybody with DADA2 has the same gene changes. But, they all cause the protein not to work well. This can lead to swelling in the body and the blood vessels. Other symptoms may include strokes, fevers, muscle pain, and areas of discolored skin. You may also have a larger liver or spleen, high blood pressure or fewer blood cells. Scientists at Vanderbilt will use BioVU to learn more about DADA2. They will first look for the number of people with DADA2 symptoms. Then, they will compare people with DADA2 symptoms and find out what gene changes they have. They will compare people with changes in the ADA2 gene. They hope to find a link between certain gene changes and symptoms. Their results will help us learn more about this disease. It may also help us learn more about what might cause certain symptoms. This could lead to better treatments for people with DADA2. It might also help us figure out who is at risk for the more serious symptoms.

May 2017

The genetics of heart rhythms

Venous thromboembolism, or VTE, is a blood clot that starts in a vein. In time, the clot can break off and end up in your lung. VTE is a combination of two terms. The first is venous thrombosis, or VT. This is a blood clot in a deep vein. Venous means vein. Thrombosis means blood clot. A deep vein is one that is not near the skin. Clots often form in your thigh or lower leg. But they can also form in other areas of your body. The other term is pulmonary embolism, or PE. This is a clot in your lung. Pulmonary means lung. Embolism is anything that can move through a blood vessel until it causes a blockage. This could be blood, a fat globule, air bubble, or something else. A PE can cause trouble breathing, heart failure, or even death. Risk factors for VTE include sitting still for long periods of time and smoking. High blood pressure, diabetes, and high cholesterol also increase your risk. Changes in some genes can be a risk factor for VTE. For women, pregnancy and certain hormones can increase your risk of VTE. Women having twins or triplets, or get pregnant at a later age are at increased risk for VTE. The more risk factors you have, the greater risk for VTE. Scientists at Vanderbilt will use BioVU to learn more about VTE and pregnancy. They will compare women who have been pregnant that did or did not have VTE. They will look for gene changes linked to VTE. They hope to find a link between certain gene changes and VTE. Their results will help us learn more about VTE. They may also help us learn more about risk factors for VTE. If we know who is at risk, we may be able to reduce the chances of these blood clots forming.

April 2017

The genetics of breast cancer.

When you are resting, your heart beats about 60-100 times per minute. When you work out, it beats faster. But it still beats in a rhythm. Electrical impulses tell our heart when to beat. Sometimes, these impulses do not work right. This can lead to heart rhythm problems. The most common is when it beats too fast for a short amount of time. For example, when your resting heart rate is more than 100 beats per minute. The medical term for this is supraventricular tachycardia (SVT). There are different types of SVT. But, the symptoms are similar. These may include feeling faint, sweating, shortness of breath, or chest pain. Most of the time, lifestyle changes and/or drugs can help or stop these fast heartbeats. In a few cases, surgery may be an option. The most common form of SVT has to do with the atrioventricular node (AV). This is part of the electrical system of the heart. If something goes wrong with this, it can cause atrioventricular nodal reentrant tachycardia (AVNRT). Scientists think that genetics may play a role in who gets AVNRT. Researchers at Vanderbilt will use BioVU to study patients with AVNRT. They will look for gene changes linked to AVNRT. They will also work with other DNA biobanks to check for the link. This will help make sure the results are true. The results may help us learn who may be at risk for AVNRT. They may also help us learn how to better treat or control it.

April 2017

How genetics may play a role in how the flu affects us.

Breast cancer is the most common cancer diagnosed in women. It does not affect all women the same. Less black women get a diagnosis of breast cancer than white women. But, more black women die from breast cancer. Many things may cause this imbalance. Money and access to care may be one cause. Differences in how the cancer looks or behaves also play a part. Genetic risk may also be a factor. For example, changes in certain genes may increase your risk for breast cancer. Scientists think there is a link between a new gene change and risk for breast cancer. Researchers at Vanderbilt will use BioVU to look for that link. They will look for this gene change in women with and without breast cancer. They think that women with breast cancer are more likely to have the gene change. They will separate black and white women. This gene change is more common in white women. By separating the two groups, they can better see the effect of the gene change on breast cancer. The results of this study will help us learn more about the genetic risks for breast cancer. People at higher risk should check for cancer more often. This will help women who may develop cancer catch it early. The sooner we find the cancer, the better we can treat it. The goal is to improve breast cancer screening for everyone.

The genetics of the adverse effects of risperidone

Almost everyone gets the flu at some point. For some, it may not last too long. For others, it may last a few weeks. For a few people, the flu may lead to a trip to the hospital. Scientists think that genetics may play a role in how bad we feel when we get the flu. A group in Wisconsin studied people hospitalized for the flu. They looked for gene changes linked to the flu. They found about 25. Two stood out. They asked researchers at Vanderbilt to double check their results for these two changes. So, the researchers will use BioVU to check their results. They will look for a link between the two gene changes and people in the hospital who had the flu. They will compare gene changes in people who did and did not have the flu. The results may help us learn who may be at risk for a really bad case of the flu. They may also help us do a better job preventing flu for people at risk. We may also learn new ways to treat the flu.

Drug and Gene Interactions, Obesity

Risperidone is a drug that treats behavior issues. These may include anger, a bad temper, being anxious or self-harm behavior. It is often given to 10-17 year olds with schizophrenia, mania or bipolar disease. The drug also helps with the symptoms of Asperger's syndrome and autism. Changes in genes can affect the proteins they make. Some changes make the protein work better. Other changes reduce how well the protein works. A few may cause the protein to not work at all. We have proteins that help us process drugs. If a change is harmful to one of these proteins, it may take longer to process the drug. That means it stays in your body longer. This can cause problems, or side effects. For young people taking risperidone, gaining weight is one of these side effects. There are also other side effects. Other proteins help drugs get to where they need to go in the body. Changes in these proteins may make side effects worse or better. Researchers at Vanderbilt will use BioVU to study side effects of risperidone. Changes in one of the proteins that process risperidone may cause weight gain. Changes may also cause other side effects. They will look for young people who took this drug. They will look for a link between gene changes and weight gain in that group. They will also look for gene changes that affect other proteins. They will look for a similar link between gene changes and weight gain. The results of this study will help us learn more about risperidone treatment. We will learn why some young people gain weight when they take risperidone. We will also learn about other side effects. It might also help us better treat their symptoms without this side effect.

The genetics of rare diseases

The genetics of blood cancers

Some diseases are "simple." A single change in one gene can cause the disease. Sickle cell anemia is an example. But, it has more than one symptom, or phenotype. Complex diseases are a result of changes in many genes. They can also have lots of symptoms. Using simple diseases, researchers at Vanderbilt came up with a way to predict disease based on symptoms. For each disease, in each person, they can determine a "phenotype risk score" (PRS).In this study, researchers will use BioVU to look for patterns in families with the same symptoms. They will check if there is a difference in PRS scores between family members. They will also look for other people who have similar symptoms. They will check their PRS scores. For those who not have a diagnosis, they will check for gene changes linked to their symptoms. Their results may help us better know how certain gene changes affect people. They may also help doctors diagnose people who do not know why they are sick. We also hope to learn more about diseases. This could lead to new or better treatments for certain conditions.

Changes in mitochondrial DNA: causes and results

Bone marrow is the soft part inside our bones. It contains stem cells. Some stem cells become blood cells. Some may grow into red blood cells. They carry oxygen in our body. Others may become white blood cells. These help us fight off infection. If something goes wrong with stem cells, it can lead to diseases. Leukemia is a cancer of white blood cells. Sometimes, stem cells grow into abnormal white blood cells. Or, the bone marrow may make too many white blood cells. Another blood cancer is when the bone marrow does not make enough healthy blood cells. There are many kinds of blood cancers. Some grow fast and spread to other parts of the body. Blood cancers are hard to treat. Scientists know that genetics can play a role. Changes in certain genes can cause disease. Sometimes these changes happen and we do not know why. Certain chemicals and smoking can also increase your risk for these gene changes. Researchers at Vanderbilt will use BioVU to study blood cancers. They will look for a link between gene changes and different types of blood cancers. The results of this study will help us learn more about different types of blood cancers. It may also help us learn who is at risk for different blood cancers. We hope it will help us better treat blood cancers.

February 2017

Genetics of type II diabetes drugs

Most of our DNA is in the nucleus of cells. This is the "brain" of the cells. Our 23 pairs of chromosomes are in the nucleus. But, we also have a little bit more. This DNA is in our mitochondria. So, we call it mtDNA. Mitochondria are the "energy factory" of the cell. It is where cells convert the energy from food into a form they can use. Each cell has one nucleus, but many mitochondria. Most people have lots of mitochondria. But some only have a few. Researchers at Vanderbilt will use BioVU to study mtDNA. They will look for links between DNA changes in the nucleus and the amount of mtDNA. Then they will look at the amount of mtDNA in different samples. They will try to answer some questions. Is there a link between the amount of mtDNA and any diseases? Do women have more than men? Does the amount of mtDNA change as we get older? Does it affect the number of white blood cells (these help fight disease)? Do changes in mtDNA affect the amount of mtDNA? Finally, the researchers will also look to see if all mitochondria from one person have the same mtDNA changes. Sometimes, only some of the mtDNA will have changes. The researchers hope to find out more about mtDNA and the changes that affect it. This could help us learn more about diseases linked with mtDNA. It might even help us find better treatments for those conditions.

February 2017

Genetics of bad drug reactions caused by our immune system

High blood sugar levels can lead to diabetes. There are two types of diabetes. Type I often occurs in children and young adults. Type II usually occurs later, in adults. A big risk factor for type II is being overweight. In type I, your body makes little to no insulin. Insulin is a protein that helps clear sugar from your blood. In type II, your body does not make enough insulin to keep your blood sugar levels in check. More and more people in the US are gaining weight. As a result, more people are getting type II diabetes. About 1 in 10 people in the US has type II diabetes. There are drugs that help control type II diabetes. One is metformin. The other is a group of drugs, called sulfonylureas. These drugs only work when the pancreas can still make insulin. They cause the pancreas to release insulin, which lowers blood sugar. But, sometimes, they can lower blood sugar too much. Two out of every three people taking these drugs have had this problem at least once. If your blood sugar drops too low, it can be life-threatening. Once a drug does its job, your body breaks it down. Proteins in the liver often help break down drugs. Genes make proteins. We know that changes in the genes that make these proteins may cause them not to work well. If one or more of the proteins that break down a drug does not work well, it can lead to a buildup of the drug in the body. If you have too much of a sulfonylurea drug, it may cause you to release too much insulin. This could cause your blood sugar to drop too low. Researchers will use BioVU to look for gene changes in patients taking sulfonylurea drugs. They will look for a link between gene changes and low blood sugar. The results of this study may help us learn which patients taking these drugs may have problems. We may adjust the dose. We may also give a different drug that will work better. This will help us give the best drug at the right dose for each patient.

February 2017

Genetics of Crohn’s Disease

Our doctors prescribe drugs to help treat many conditions. Some of these might not be serious, like a cough or a sprained ankle. But sometimes, they can be life-threatening, like certain infections or cancer. In some cases, our defense, or immune system, can get in the way. Our immune system detects things that do not belong. This is often a virus, or bacteria. There are two ways our immune system can react. It can send out proteins to attack. There are also immune proteins on the surface of cells that can lead an attack. Sometimes, our immune system may think a drug does not belong. We call this a drug allergy. Allergies can be mild or severe. A mild reaction may be a rash or itching. These are easy to treat. But sometimes, allergies can be severe. They can even be life-threatening and cause long-term problems. We do not know who is at risk. We do not know how or when these attacks may happen. Research shows that changes in certain genes may play a part in these attacks.Scientists at Vanderbilt will use BioVU to try to learn more about these attacks caused by drugs. They will look for gene changes linked to immune system reactions. They will also look at the genes that make the immune proteins on the surface of our cells. They hope to learn more about why certain drugs cause the immune system to react in some people. Their results may help us figure out how the drug causes the immune attack. This could lead to better treatments and new ways to figure out who is at risk. The goal is to prevent these reactions in the future.

Genetics of drug response for an infant heart condition

Crohn's disease is a type of bowel disease. It can affect any part of your digestive track, from your mouth to your anus. Most of time, it affects the end of your small intestine. It causes swelling in the lining of your digestive track. Crohn's disease affects different parts of the digestive track in different people. Stomach pain, diarrhea, feeling tired and weight loss are all symptoms. For some, these can be overwhelming and may lead to life-threatening problems. There is no cure. But, there are treatments that ease symptoms and help people function well. Scientists found links between certain gene changes and Crohn's disease. Researchers at Vanderbilt will use BioVU to confirm these gene changes. They will also check how Crohn's affects the patients with specific changes. They hope to learn how specific changes affect the disease. People with certain changes may respond better to a given drug. We may also learn more about how changes affect when someone gets symptoms, or how bad the symptoms get. The results of the study may help us know how best to treat people with this disease.

Genetics of high blood pressure

The pulmonary artery carries blood from the heart to the lungs to get oxygen. The aorta carries oxygenated blood from the heart to the body. Before a baby is born, fluid fills its lungs. So, fetal blood does not go to its lungs to get oxygen. It gets oxygen from its mother through the umbilical cord. The ductus arteriosus (DA) is blood vessel that connects the pulmonary artery and the aorta. This allows the blood to bypass the lungs. When the baby is born, it needs to get oxygen from its lungs. So, the DA closes within a couple days. But, sometimes, the DA does not close. Patent ductus arteriosus, or PDA, is when the DA does not close all the way, or at all. If the opening is small, it may not cause problems or need treatment. But, if the DA stays wide open, it can cause problems. Blood without much oxygen may flow in the wrong direction. This can weaken the heart muscle. That can lead to heart failure and other problems. This happens in about 2 out of every 3 babies born before 28 weeks. We do have a few drugs that treat PDA. Surgery may also be an option. Indomethacin is a drug that treats PDA. It helps close the DA in 4 out of 5 babies. But, it can have bad side effects. These include a hole in the bowel, infections, kidney problems, and issues with blood flow to the brain. Scientists think that changes in certain genes may predict the effects of indomethacin. Scientists will use BioVU to look for a link between gene changes and drug response. Their results will help us learn who will benefit most from indomethacin. For patient not predicted to do well with the drug, surgery may be the best option. These results will let us treat the patient quickly with the best option for them.

Genetics of multiple sclerosis

High blood pressure (HBP) is common. One in three adults has HBP. Normal blood pressure is less than 120/80. Two main factors decide your blood pressure. One is the force needed to get blood through your arteries. The more narrow your arteries, the higher your blood pressure. This is the top number. A good range is 80-120. 140 or more is high. The other factor is how much blood your heart pumps. More blood means higher blood pressure. This is the bottom number. We want this number to be between 60 and 80. 90 or more is high blood pressure. You may have HBP and not know it. It does not always have symptoms. But, it can still cause damage to your heart or blood vessels. HBP develops over time. We do not always know what causes HBP. Not all people with HBP can control it. Some people can control HBP with medicine. Others can control it with diet or working out. Scientists think that changes in certain genes may play a role. Researchers at Vanderbilt will use BioVU to try to learn more about HBP. They will look for gene changes linked to HBP. They will also look at other conditions linked to those gene changes. They hope to learn more about HBP. Their results may help us find better treatments for people at risk for HBP. We may also learn more about related conditions.

Genetics of sepsis and organ failure

Multiple Sclerosis (MS) is a disease of the central nervous system. Your immune, or defense system, attacks the protective covering of your nerves. This can mess up the signals from your brain to the rest of your body. Symptoms often start at an early age. They may get worse as time goes on. Weakness in arms and legs, trouble thinking, and vision problems are a few symptoms. Signs and symptoms vary between people. It depends on the amount of nerve damage. It also depends on which nerves it affects. Current treatments may lower the number of relapses. They may also slow down the disease. There is no cure. Where you live or work may play a role in who gets MS. Changes in certain genes may also play a part. But, we do not how these changes affect disease progress. We do not know which parts of the body it will affect or how people will respond to treatment. Scientists at Vanderbilt will use BioVU to try to learn more about MS. They will look for changes in genes linked to symptoms or treatment response. They will also look for gene changes linked with disease progress. They hope to learn more about how the disease works. Their results may help us find better treatments. They may also help us reduce symptoms in some patients.

November 2016

Genetics of long-term inflammation of the middle of the chest cavity.

Hemoglobin is a protein found in red blood cells. It contains iron. Oxygen binds to the iron in hemoglobin. As your heart pumps blood through your body, it delivers oxygen. When red blood cells die, they burst. This releases hemoglobin. Free hemoglobin can cause damage to kidneys and other organs. Haptoglobin, or Hp, is a protein found in the blood. Hp binds free hemoglobin. This protects organs from damage. It also allows the body to recycle iron. Certain changes in the HP gene can cause the protein not to work right. They can cause anemia, or low iron. They may also cause organ failure. Sepsis is a complication of some infections. If it is serious enough, it can lead to organ failure or death. Scientists think there might be a link between changes in the HP gene and sepsis too. Researchers at Vanderbilt will use BioVU to try to learn more about HP gene changes. They will look for gene changes linked to sepsis or organ failure. They will also look at other conditions linked to changes in this gene. They hope to learn more about how changes in the Hp protein affect us. Their results may help us find better treatments for people at risk for sepsis or organ failure. We may also learn more about other conditions linked to changes in Hp.

October 2016

Genetics of endometrial cancer

The mediastinum is the space between your lungs. It contains the organs and tissues between your breast bone and your backbone. The middle part includes your heart and the main blood vessels to and from your lungs. It also contains your wind pipe (trachea), and the nerves and lymph nodes in this region. Fibers and collagen form the tissue that supports these organs. Fibrosing Mediastinitis, or FM, is a rare condition. It is linked to a common fungus infection. Only a few people with the infection will develop FM. For those who do get FM, scar tissue forms around the lymph nodes in this area of the body. This puts pressure on your heart and blood vessels. It can also constrict your airway making it hard to breathe. FM can be life-threatening. Scientists think that changes in certain genes may increase your risk for FM. Researchers at Vanderbilt will use BioVU to check for links between gene changes and FM. The results may help may help doctors predict who is at risk for FM. It may also lead to new ways to treat it.

August 2016

Cancer, Women and Health

The endometrium is the inner layer, or lining, of the uterus. This is where endometrial cancer starts. It is sometimes called uterine cancer. It can cause abnormal bleeding. This prompts most women to go to the doctor. Because they do, we often detect endometrial early. Removing the uterus often cures this cancer. Scientists know changes in certain genes may increase your risk for this type of cancer. Researchers at Vanderbilt will use BioVU to look for new links between gene changes and this cancer. They will also check other risk factors for endometrial cancer. They will add their results to a larger cancer database. The more data that is included, the more information we can learn. Their results may help may help doctors predict who is at risk for this cancer. It may also lead to new ways to treat endometrial cancer.

Genetics of asthma

July 2016

Lung Disease, Other

Viruses can cause colds, which can make it hard to breathe. Asthma is also a condition that makes it hard to breathe. Both can cause you to cough, wheeze, or become short of breath. In babies, viral infections are common. But, not all lead to asthma. In babies, if an infection is serious, you may have to go to a hospital. These viruses or lower airway infections are the ones that may lead to childhood asthma. Asthma is a result of both genetic and environmental factors. Timing also plays a role. For example, a gene change may cause asthma only if you get certain virus between the ages of 1 and 2. This makes it hard to find the changes in genes that link to asthma. Scientists found a few gene changes they think may cause asthma.Researchers at Vanderbilt will use BioVU to study childhood asthma. They will look for gene changes in infants who had certain lower airway infections. They will check if those children developed asthma. They will look for a link between certain gene changes and childhood asthma. The results of their study could help us better understand childhood asthma. It may also help us predict who might be at risk. It may lead to better treatment. It could even lead to new ways to reduce the risks, or prevent it.

Genetics of kidney problems after chemotherapy

July 2016

Genetics of language and rhythm

Cisplatin is a type of drug to treat certain cancers. These include head, neck, testicular, ovarian, breast, and lung cancers. For some cancers, it works well. But, in some people, it can cause serious side effects. One of them is nephrotoxicity. This is when a drug damages the kidneys so they do not work right. About 1 in 3 people that receive cisplatin will get kidney damage. People with certain changes in a gene are more likely to get kidney damage. Scientists found a gene change linked to kidney damage after heart surgery. They also found changes in this same gene linked to kidney damage in cisplatin-treated mice. They think this same gene change may play a role in kidney damage after getting cisplatin. Researchers at Vanderbilt will use BioVU to look for people who received cisplatin. They will look for gene changes in those patients. They will check for a link between the gene changes and those who get kidney damage. If they find a link, they will check another group of patients to confirm the link. The results of the study may help doctors predict who is at risk for kidney damage. It may also lead to new ways to reduce the risk.

Genetics of an immune system response

Some children are slow to learn language skills. They may not say words until they are 2 years old. It may also be hard to understand them. They may have Specific Language Impairment (SLI). SLI is a language disorder. It is not associated with any developmental delays or hearing loss. As they get older, children with SLI may have a hard time learning new words. They may also struggle with conversation. Children with SLI have trouble using verbs.The cause of SLI is not known. Scientists think that genetics may play a part. SLI often runs in families. There is also a link between gene changes and rhythm and grammar skill development. So, Researchers at Vanderbilt will use BioVU to look for people with SLI. They will look for known gene changes. They will also look for changes in similar genes. Lastly, they will look for changes in genes linked to musical talent. The results could help us learn what causes SLI. It may also help us learn who might be at risk for SLI. This could help us better treat people with SLI.

Genetics of Polycystic Ovarian Syndrome

Sickle cell anemia is one of the most common genetic blood diseases. It mostly affects people of African descent. A single change in a gene is the cause. The result is not enough healthy red blood cells to carry oxygen through your body. The leading cause of death in adults with sickle cell is acute chest syndrome (ACS). ACS causes chest pain, fever, and makes it hard to breathe. Sickle cells blocking blood vessels in your lung or a lung infection can cause ACS. The complement system helps us fight off infections. It is part of our immune system. When we need this system, about 30 proteins get turned on. Some of these proteins are in our blood stream. Others are on the surface of cells. Sometimes the system does not work well. It might work overtime, or out of control. This can damage your organs. In some people with ACS, this protein system works overtime. This can cause ACS to be severe, or life-threatening. Changes in the some complement system genes may affect how they work. Scientists think there is a link between the gene changes and severe ACS. Researchers at Vanderbilt will use BioVU to look for people with sickle cell anemia and ACS. They will check for gene changes in patients with and without severe ACS. They hope to find a link between the gene changes and severe ACS. The results could help us learn more about ACS. It may also help us learn who might be at risk for severe ACS. We may even learn how to better treat ACS.

Genetics of complex traits

Polycystic Ovary Syndrome (PCOS) is a common disorder in women of child bearing age. Cysts, or fluid filled sacs, develop on the ovaries. Women with PCOS may have high levels of certain hormones. Some of the symptoms are irregular periods, acne, excess hair and/or obesity. We do not know what causes PCOS. But, PCOS runs in families. This suggests that genetics may play a role. Researchers at Vanderbilt will use BioVU to look for women with symptoms of PCOS. They will check for gene changes. They hope to link the gene changes to the symptoms of PCOS. Their results could help us learn more about PCOS. It may also help us find better treatments.

Genetics of chemotherapy side effects

Genes play a role in human traits and diseases. Sometimes, one gene determines one trait. For example, if you have wet or dry earwax. A change one gene can also cause a disease. This is the case with sickle cell anemia. But most of the time, diseases are a result of lots of small gene changes. Schizophrenia, depression, diabetes, autism, and height are examples. In these cases, each gene or gene change explains a little part of the whole picture. We call these complex diseases or complex traits.If we add up the effects from each gene change, we can get a genetic risk score. Researchers at Vanderbilt will use BioVU to calculate genetic risk scores for lots of diseases. They will look for new links between lab values or symptoms and the genetic risk scores for each disease. The results could help us learn more about each disease. It may also help us learn who might be at risk for them. We might even learn how to better treat certain diseases.

April 2016

Genetics of certain steroids

Colorectal cancer is cancer that starts in the colon or rectum. The colon is your large intestine. It is the lower part of your digestive system. The rectum is the last few inches of your colon. Most cases start as polyps, or small clumps of cells. Over time, some polyps may become cancer. Often, the polyps do not cause problems. Doctors suggest regular screening tests to find and remove polyps before they become cancer. The most common treatment for these cancers is 5-fluorouracil (5-FU). About 1 in 3 patients has bad side effects from 5-FU. Changes in the proteins that process drugs cause many side effects. A few people have changes in one of these proteins that cause known side effects. But, most of the time, we do not know what causes the side effects. Scientists think changes in other proteins that process 5-FU may be the cause. Researchers will use BioVU to find patients with colorectal cancers who received 5-FU. They will look for gene changes that affect the proteins that process 5-FU. The changes affect the amount of each protein. They will look for a link between the changes and side effects from 5-FU. Their results may help us know who will have bad side effects from 5-FU. The results could also help us better treat patients with colorectal and other cancers.

March 2016

Drug and Gene Interactions, Immune System Disease

Glucocorticoids (GCs) are steroids produced by your body. They are part of our normal response to stress and help us use the nutrients in foods. GCs also reduce inflammation, or swelling, in your body. Doctors use GCs to treat a variety of diseases. Examples include rheumatoid arthritis, asthma, allergies, and even some cancers. But, they do not always work like they should. Sometimes, they have serious side effects. Changes in certain genes may play a role in how well GCs work. We know that gene changes can affect the way our body processes GCs. Two common ways to tell how well GCs work are easy to track. One is to check your white blood cell counts. We can tell how well GCs are working by looking at these numbers. The other is your blood sugar level. GCs often raise your blood sugar. If GCs are not working well, your blood sugar will be too high. Researchers in this study will use BioVU to look for gene changes linked to GCs. They will look for people who took GCs. They will look at their white blood cell count and their blood sugar levels. They will compare the genes of those who had changes in these values, to those who did not. They hope to learn which gene changes alter our white blood cell count. They also hope to figure out which gene changes raise our blood sugar. The results of this study could help us learn more about how gene changes affect GCs. It will also help us understand who GCs may help, and who will have side effects. This could help us better treat people who need GCs.

Genetics of a heart valve problem

February 2016

Genetics of an aortic valve problem

The mitral valve is on the left side of your heart, between the upper and lower chambers. Your heart has four chambers. Two upper chambers and two lower ones. Valves control the flow of blood from the upper to the lower chambers. Valves work like dams. Dams hold water upstream when closed. When we open them, water flows downstream. Dams do not allow water to go back upstream. Heart valves work the same way. Blood flows from the upper to the lower chambers. Once the blood is in the lower chamber, the valve closes. The left side pumps blood with oxygen to the body. When the valve closed, blood starts filling in the top part again. But, sometimes, heart valves do not close right. This could allow the valve to prolapse, or bend backward, into the upper part when the heart pumps. Mitral valve prolapse, or MVP, could allow some of the blood on the left side to leak back into the upper part. This is a heart murmur. About 1 in 40 people have MVP. In most people, it is not life-threatening and does not need treatment. But, in a few cases, MVP can cause serious problems. Sometimes, we can control these problems with medication. Other times, we have to do open heart surgery to repair or replace the valve. Scientists think there is a link between MVP and changes in certain genes. Researchers at Vanderbilt will use BioVU to check for these links. They will also look for other gene changes linked to MVP. The results of this study could help us learn more about how gene changes affect MVP. It might help us learn who could be at risk for MVP. Knowing who is at risk could help us catch the serious problems early. It could also help us find new ways to treat MVP, or maybe even prevent it.

February 2016

What the Y chromosome can tell us

The aorta is the main artery from the heart. The lower left side of the heart pumps blood with oxygen to the body through the aorta. A valve controls the flow of blood from this area of your heart to the aorta. Valves work like dams. Dams hold water upstream when closed. When we open them, water flows downstream. Dams do not allow water to go back upstream. Heart valves work the same way. The aortic valve lets blood flow from the heart to the aorta. Once the blood is through the valve, the valve closes. When the valve closed, blood starts filling in the heart again. But, sometimes, heart valves do not open or close right. If the aortic valve narrows, it might not open all the way. This is aortic stenosis, or AS. Stenosis means narrowing of a passage in the body. If you have AS, your heart has to work harder to pump blood to the rest of the body. Over time, this can make the heart weak. It might also mean it cannot pump as much blood. This can cause serious problems. Sometimes, we can ease symptoms with medication. But, most of the time, we have to do open heart surgery to repair or replace the valve. Right now, we have no treatments that can slow down or stop AS. About 1 in 50 people over 65 get AS. The chances of getting AS go up as we continue to age. Scientists think there is a link between AS and changes in certain genes. Researchers at Vanderbilt will use BioVU to check for links between gene changes and AS. The will compare the genes of people with AS to similar people without AS. They will share their results with other groups working on AS. The results could help us learn how gene changes affect AS. It might help us learn who could be at risk for AS. It could also help us find new ways to treat AS, or maybe even prevent it.

Genetics of rare diseases

DNA contains the instructions for making all living things. This includes everything from bacteria and plants to humans. Proteins package DNA into chromosomes so it will fit in our cells. Humans have 23 pairs of chromosomes. We get one set from our mother. This includes one X chromosome. We get the other set from our father. Females get an X. Males get a Y chromosome. The Y chromosome contains roughly 27 genes. These genes might determine how tall you will be. Y-genes might also affect how well you can hear, and your risk for heart disease. But, only a few groups have studied these genes. Researchers at Vanderbilt will use BioVU to study genes on the Y chromosome. They will look for men with certain Y-gene changes. They hope to find gene changes linked to disease risk. They will combine their findings with other groups working on the Y chromosome.

Using genetics to predict a common shoulder injury

A disease is defined by a certain set of symptoms or test results. A rare, or orphan, disease affects only a small number of people. There are thousands of rare diseases. But, only a few hundred have any treatments. Rare diseases are often hard to diagnose. Sometimes, we cannot make a diagnosis at all. We think many of these diseases are genetic. But, we do not know the specific gene changes. Scientists at Vanderbilt will use BioVU to help. Most BioVU studies start with a known disease and look for gene changes. But the reverse idea can also be helpful. We can start with gene changes and look for symptoms, or a possible disease. BioVU saves genetic data from studies and test results. So, there are lots of samples in BioVU that already have genetic information. We will start with genetic information from patients with undiagnosed diseases. We will see what symptoms they might have. We will find how often a gene change and a symptom, or set of symptoms, match. Then we will look for patients without those symptoms. We will check if they have the gene change of interest. If they do not, then we will know the gene change links to the symptoms. This will give us clues about the cause of some diseases. With more work, we hope to know the cause of these diseases. Once we know the cause, we can work on new or better treatments. It may also make it easier to diagnose some diseases.

Genetics of heart failure

The rotator cuff is a group of muscles and tendons in the shoulder. They help move your arm all around. You use them when you reach up, or reach your back. A rotator cuff tear is a tear in one of the tendons. Wear and tear or age can weaken the tendons. This makes them more likely to tear. A rotator cuff tear often causes pain around your shoulder. Most people will suffer from a rotator cuff problem at some point. A tear can sideline people who need their arm to do their job, or sport. Carpenters, painters, baseball players, and swimmers are examples. Falling on your arm or lifting something heavy can also tear your rotator cuff. But, some doctors found flaws in tendons cause weakness. Abnormal structural fibers and blood vessels can also cause weakness. These do not have to do with overuse. Genes control these changes. So, researchers think that changes in our genes may predict who is at risk for rotator cuff tears. Scientists at Vanderbilt will use BioVU to look for people with rotator cuff injuries. They will focus on adults between the ages of 50 and 65. They will look for a link between gene changes and rotator cuff tears. They will compare the genes of people with tears, to people with no tears. The results of the study will help us understand this type of injury. This could lead to new ways to treat it. It may also help us predict who is at risk. It may even help us learn how to prevent it.

Using genetics to predict disease

Heart Failure (HF) affects more than 6 million people in the United States. HF is when the heart does not work like it should. Heart attacks, high blood pressure, and heart disease can all cause HF. Genes may also play a role in HF. Most of the time, we treat HF with a healthy lifestyle and/or prescription drugs. The good news is people with HF are living longer. The bad news is 1 out of 2 people still die within 5 years after diagnosis. Your heart has four chambers. The top chambers are the atria. The lower chambers are the ventricles. Your heart pumps in two phases. In the first phase, the ventricles push blood to the rest of the body. This is when your heart beats, or contracts. This is systole. In the second phase, the ventricles relax and blood moves from the atria to refill them. This is diastole. The right side of your heart pumps blood to the lungs to get oxygen. The left side pumps blood with oxygen to the body. In most people with HF, the left side is the side that has problems. Your body does not get enough oxygen or nutrients. We classify HF by what causes it. If the heart cannot pump with enough force, it is systolic failure. If the ventricles cannot relax like they should, it is diastolic HF. In both cases, blood is not pumped out of the heart well. As a result, blood can back up in the lungs and the rest of the body. This can make it hard to breathe, especially during exercise. Swollen ankles are another symptom. Diastolic dysfunction, or DD, is stiffness of the heart. This can lead to either type of HF. It can affect how the heart pumps, or squeezes. But, since the heart cannot relax, DD is often the major problem in diastolic HF. Scientists at Vanderbilt will use BioVU to study HF. They will look for adult HF patients with and without DD. They will check for links between certain gene changes and each type of HF. This information could help doctors figure out who is most at risk for each type of HF. It may also lead to new treatments for certain types of HF. It could even lead to ways to prevent HF.

December 2015

Using genetics to predict post-concussion syndrome

We know what causes some diseases, like chicken pox and measles. As a result, we know how to treat them. We also know vaccines can prevent them. Gene changes can also cause diseases. Sometimes we are born with these gene changes. But gene changes also happen after we are born. Activity, diet, and environment also play a role. Many diseases are a result of gene changes. But we do not know what those gene changes are. Scientists at Vanderbilt will find known links between genes and diseases. They will also find known links between gene changes and diseases. They will use this information to create a system to figure out which genes or gene changes to study next. They will test their system with data from BioVU. They hope their system will give us the top genes or gene changes related to disease. This will give us the best chance to find new links between genes or gene changes and disease. Knowing what causes a disease can help us better treat it. It may even help us learn how to prevent it.

December 2015

Genetics of inflammation in high blood pressure

Concussions are a type of brain injury that changes the way your brain works. Concussions can happen if you get a hard hit to your head, or your head is violently shaken. They are common in contact sports, like football. They can also happen if you fall and hit your head. Every concussion temporarily injures your brain somewhat. Most concussions are mild. Symptoms may include headache, memory loss, and confusion. You may also briefly lose consciousness, feel nauseous or have slurred speech. Symptoms may not show up at first. They can last for a few days or a few weeks. Post-concussion syndrome (PCS) is when the symptoms last for more than a month. PCS may affect if you can work or go to school. PCS is not linked to how hard you hit your head. Scientists wonder if genes might play a role in who gets PCS. Researchers at Vanderbilt will use BioVU to look for people who have had a concussion. They will then compare the genes of those who had symptoms for a longer period of time and got PCS to those who did not. They will look for a link between gene changes and PCS. The results could help doctors know who is at risk for PCS. It might also lead to new ways to treat it.

November 2015

Genetics of diarrhea disorders in children

Hypertension means high blood pressure, or HBP. Blood pressure is based on the amount of blood pumped by your heart and the size of your arteries. Arteries carry oxygen-rich blood to the body. HBP is when pressure in your arteries stays higher than it should. Over time, HBP can lead to problems, like heart disease, a heart attack, or stroke. Most of the time, we do not know what causes HBP. Scientists studied patients that have chronic, or long-term, swelling conditions, like rheumatoid arthritis. They noticed that those patients tend to have HBP more often than healthy people. So scientists think that inflammation, or swelling, might have a role. Researchers in this study will use BioVU to look for patients that have rheumatoid arthritis. They will divide them into two groups. One group will also have HBP. The other group will not. Then they will check both groups for changes in the genes involved in swelling. They think the group that also has HBP will have more gene changes than the other group. This study may help us understand how swelling relates to high blood pressure. It may also help doctors better treat patients at risk for high blood pressure.

September 2015

Tool to help find links between genes and diseases

Diarrhea is loose, watery stools. Some common causes include infections, drugs, and some types of sugar. It often lasts just a couple of days. But, sometimes it can last longer. When this happens, it may mean be a sign of something more serious. Diarrhea can lead to dehydration (always feeling thirsty), fever, or blood in stools. Children with diarrhea that lasts longer than 2 days may need a doctor. Sometimes, we don't know what causes diarrhea. Researchers think changes in certain genes may play a role. Scientists will use BioVU to look for children with diarrhea of unknown cause. Then they will check if they have any of these gene changes. They will compare the gene changes in children with diarrhea to healthy children. The goal is to find gene changes that may explain this type of diarrhea. The results of this study may help us better treat children with diarrhea. It could also help us know who might be at risk.

August 2015

Genetics of brown recluse spider bites

In the last 15 years, scientists have linked many gene changes with specific diseases. We now have better ways to treat or prevent disease. We also know that gene changes can affect drug response, or how the body processes drugs. This means more people are getting the best drug for their unique needs. This is all good news. But, we do not always know exactly how the gene changes work. We just know there is a link. There is a lot more information in genes that we do not know yet. A group of scientists at Vanderbilt helped to create a new tool to aid with this. The name of the tool is PrediXcan. The tool tests how gene changes affect disease or drug response. The scientists will apply their tool to BioVU. Some samples in BioVU already have genetic information. They will start with these samples. They will create a database with their results. All researchers at Vanderbilt will be able to use this new database. The researchers will be able to see links between genes and diseases. They will be able to search by gene or by disease. As we add data from more BioVU samples, the scientist will rerun the tool. They will add the new sample data to their database. With more and more data, the more sure we are that we will find links that matter. The goal is to find known and new genes linked to disease or drug response. It is also to help researchers find out how the gene changes work.

Genetic risk factors for type II diabetes

Recluse spiders live in the mid-south region of the United States. The area covers 15 states from Nebraska to Ohio, and Texas to Florida. The brown recluse spider is the most common. These spiders have a distinct violin pattern on their back. When recluse spiders bite, they inject venom, or poison. For most people, only the area near the bite is affected. But, for some, the reaction is much worse. It can be systemic, or system-wide. Symptoms include fever, nausea, muscle aches and feeling tired. In a handful of people, the bites could be life-threatening. Blood cells may rupture and/or have trouble clotting. A chemical in the venom of recluse spiders can cause blood cells to rupture. But, this only happens in a small number of people. So, scientists at Vanderbilt think that other medical conditions may be a factor. They also think genetics may play a part. They will use BioVU to find people bitten by recluse spiders. They will check to see if the patients had any other conditions. These other conditions may affect how the body reacts to the bite. The scientists will also check for any gene changes. They want to find out if gene changes affect how the body reacts too. The goal is to figure out why some people have bad reactions and others do not. The results of this study may help us predict how someone might react to a recluse spider bite. It might also help doctors learn new ways to treat those who have a bad reaction.

Genetics of drug-induced pancreatitis

High blood sugar levels can lead to diabetes. There are two types of diabetes. Type I is often something you are born with. In type I, your body makes little to no insulin. Insulin is a protein that helps clear sugar from your blood. Type II usually occurs later, in adults. In type II, your body does not make enough insulin to keep your blood sugar levels in check. More and more people are getting type II diabetes in the US. Over time, poor control of blood sugar levels can cause your kidneys to stop working. This happens to some people, but not others. Scientists found a link between a gene change and loss of kidney function in people with type II diabetes. The group at Vanderbilt will use BioVU to confirm their findings. They will look for people with type II diabetes. Then they will group the patients into those with working kidneys, and those without. They will check for the gene change in both groups. They will also look for other gene changes that may affect kidney function. The goal is to confirm the gene change linked to loss of kidney function. They might also find other gene changes play a role. The results of this study may help us know which type II patients are at risk for losing kidney function.

Genetics of an abnormal heart rhythm

Pancreatitis is when your pancreas becomes swollen and tender. Your pancreas is a long, flat gland found behind the stomach. It makes hormones that help control how your body breaks down sugar. It also makes proteins that help you digest food. These proteins travel to the small intestine where they start to work. Pancreatitis occurs when the digestive proteins start to work before they leave the pancreas. It can be very serious. Pancreatitis can either be acute or chronic. Chronic means it occurs over time and lasts many years. Common causes are heavy alcohol use, cystic fibrosis, smoking and high blood levels of calcium or fats. Acute means that it comes on fast and doesn't last long. The most common cause is gallstones. Certain prescription drugs can also cause acute pancreatitis. The term for this is drug-induced acute pancreatitis, or DIAP. At this time, we do not know what causes it. Scientists think that genetics might play a role in DIAP. Researchers at Vanderbilt will use BioVU to look for people with DIAP. Then they will check for certain gene changes. The goal is to find a link between the gene changes and DIAP. The results of this work could help us know who will get DIAP. Doctors can test for gene changes before you get a drug. If you have gene changes linked to DIAP, you might get a different drug. If another drug isn't an option, the results could help us better treat the DIAP.

Double checking genetic changes linked to heart attacks

Atrial fibrillation, or AF, is the most common type of abnormal heart rhythm. It is often described as an uneven and rapid heart rate. Heart palpitations, shortness of breath and weakness are all symptoms of AF. It affects about 1 in 4 adults in their lifetime. AF is not usually life-threatening. But, it can lead to complications like blood clots in the heart or brain and heart failure. Scientists believe that genetics may play a factor in AF. Researchers at Vanderbilt will use BioVU to look for patients with AF. They will then check for a link between AF and certain gene changes. The goal is to find new gene changes linked to AF. Other researchers around the country are doing similar studies. They will combine information from all the studies in hopes of finding new gene changes linked to AF. This will help doctors better treat AF. It can also help us learn who might be at higher risk for AF.

June 2015

Genetics of blood cancers and disorders

Heart attacks are the leading cause of death in the United States. Many factors can lead to a heart attack. A high fat diet, high blood pressure, diabetes and smoking can all increase your risk of a heart attack. Family history may also play a part. Scientists found that certain gene changes may increase your risk of a heart attack. The study focused on people of European decent. The group at Vanderbilt will use BioVU to look for similar patients that have had a heart attack. Then they will look for the known gene changes. The goal is to find the same gene changes linked to heart attacks in BioVU. This study may help us learn how gene changes affect a person's risk of a heart attack. It may also help some people make better choices to reduce other risks.

May 2015

How statistics can help protect privacy of genetic information

Cancers start when abnormal cells grow out of control. They are often named for where they start, like lung cancer. Most cancers are due to gene changes that happen during our life. Smoking or exposure to certain chemicals can increase our chance of getting cancer. But, most of the time, we don't know what causes the gene changes that lead to cancer. Sometimes, direct DNA changes within genes can affect the proteins they make. Other times, DNA changes can occur in regions that control gene activity, which can affect how much protein is made. These determine if or how much of the protein to make. All these types of gene changes can cause problems. In this study, researchers will focus on blood cancers. They will use BioVU to look for people with blood cancers. Then they will check for DNA changes within these control regions. They will look for a link between these gene changes and certain types of blood cancers. The results of this study could help us learn more about cancer. It could also help us learn who might be at risk and how to better treat certain types of cancers.

April 2015

How genetics may affect the metabolism of an immune suppression drug

Precision medicine uses all possible information to make the best medical decisions. This includes genetics, lab tests, images, and talks with your doctor. The goal is to improve care, lower costs, and reduce any side effects. Doctors and researchers can enter genetic information into secure online databases. This can help other doctors better treat their patients. It can also help us learn about links between gene changes and disease or drug side-effects. But, if you know enough about someone's genetics, you might be able to find out more than you should. The goal of this study is to test ways to stop that. Researchers will use BioVU to test some of the ways to find out information. Since BioVU is not linked to identifying information, they will not be able to actually get any of that. But, they can test ways to prevent someone from getting that information. The results could help make shared genetic data more secure. With better security, more data will be shared. This could lead to new ways to treat diseases and prevent others. It could also lead to better drugs and less side effects.

March 2015

Are “flight-or-fight” gene changes linked to disease?

Azathioprine is a drug given to patients after an organ transplant. The drug helps your body adjust to the new organ. It works by reducing the immune system's reaction. It can also treat other immune conditions, like lupus, long-term muscle inflammation, or inflammatory bowel disease. For some people, the drug has some bad side effects. These include low number of white blood cells, skin reactions, and an inflamed pancreas. Side effects can happen when your body doesn't metabolize, or process, the drug like it should. Scientists think that side effects are due to changes in certain metabolism genes. Researchers at Vanderbilt will use BioVU to look for people who took azathioprine. They will look for certain gene changes in the ones that had bad side effects. They hope to link specific gene changes to these side effects. The results of this study will help us learn who can take azathioprine and who might have bad side effects. Doctors can test for gene changes before you get the drug. If you have gene changes linked to side effects, you can get a different drug. The new drug will still help you. But, you won't get the bad side effects.

February 2015

Brain and Nerve Disease, Other

The flight-or-fight response is how our body reacts to a possible threat. Blood goes to our muscles, we get a burst of energy, and our pupils get bigger. First, our body dumps adrenaline into our blood stream. Adrenaline then binds to specific proteins. These proteins start the flight-or-fight response. The proteins that bind adrenaline are adrenergic receptors. There are three types. We're going to focus on the beta-adrenergic receptors (ADRBs). When adrenaline binds to ADRBs, our heart pumps faster and we get a burst of energy. The ADRB gene makes the ADRB protein. Scientists think that there is a link between changes in the ADRB gene and disease. Researchers at Vanderbilt will use BioVU to look for people with changes in the ADRB gene. Then they will check for links between the ADRB gene changes and any diseases. The goal is to find the same gene change linked to the same disease in different people. This study could help us learn more about certain diseases. It could also help us find new ways to treat these diseases.

Genetics of pulmonary hypertension

February 2015

Genetics of coronary heart disease

Hypertension means high blood pressure. High blood pressure is when pressure in your arteries stays higher than it should. Arteries carry oxygen-rich blood to the body. Pulmonary arterial hypertension (PAH) is a special type of high blood pressure. This type affects the arteries in your lungs (pulmonary arteries) as well as the right side of your heart. The right side of your heart pumps blood to the lungs to get oxygen. The pulmonary veins then bring the oxygen rich blood back to the left side of the heart. The left side then pumps oxygen-rich blood to the body. In PAH, the high pressure (hypertension) in the pulmonary arteries are difficult for the right heart to push against. Over time, this makes the heart muscles weak to the point they begin to fail to work well. Lung and heart diseases, AIDS, and other disease can cause PAH. We call this associated PAH, or APAH, because it links with a disease. But, sometimes we don't know what causes PAH. Idiopathic means "of unknown cause." So, idiopathic PAH, or IPAH, means pulmonary arterial hypertension of unknown cause. Scientists think there might be a link between iron metabolism and IPAH. They found certain gene changes linked with IPAH. Some gene changes may overlap with those linked with iron metabolism diseases. The Vanderbilt scientists will use BioVU to check if any gene changes overlap. Then they will go back and check for the same gene changes in the original group. Finally, they will check if these gene changes are also linked to APAH. This study may help us understand more about pulmonary hypertension. It may also help doctors understand who might be at risk for PAH.

February 2015

Genetics of sinus infections

Heart disease is the #1 cause of death for men and women in the United States. It affects more than 13 million Americans. Heart disease is when plaque builds up in the arteries of the heart itself. Arteries carry oxygen-rich blood. Plaque is a waxy substance mostly made from fats and cholesterol. This is sometimes called hardening of the arteries. As plaque builds up, it narrows the arteries, causing blood flow to slow down. This slowly starves the heart of oxygen and nutrients it needs to work right. Gene changes, even tiny ones, may play a role in heart disease. Vanderbilt scientists will use BioVU to check for a link between heart disease and certain gene changes. They will look for gene changes related to blood sugar. They will also look at how often these gene changes occur in different populations. This study may help doctors better predict who is at risk for heart disease. It might also us learn how to better treat it.

December 2014

Genetics of high blood pressure due to certain drugs

Chronic sinus inflammation affects 10-15% of adults in the United States. Sinuses are open pockets in your skull around the eyes and behind the nose. When these become blocked, or too much mucus builds up, it can cause swelling. This is a sinus infection. Other symptoms include headaches, runny nose, or a cough. Allergies, asthma, germs, smoking, and second hand smoke can all cause sinus infections. Genes may also play a part. If a sinus infection lasts longer than a couple of weeks, it is chronic, or long term. Cystic fibrosis (CF) is a disease of the lungs and digestive system. Cells in these tissues make mucus, sweat, and digestive juices. In CF, these cells do not work right. These cells usually make thin fluids. In CF, a gene change causes the cells to make fluids that are thick and sticky. So, instead of acting like oil, the fluids plug things up. A common side effect of CF is sinus infections. Scientists have found gene changes linked to CF. Vanderbilt scientists think some of these gene changes may link to sinus infections. They will use BioVU to look for people that have CF. Then they will figure out how many also have chronic sinus infections. They will check if certain gene changes are only found in people with infections. They will repeat this same study in people who do not have CF. They will compare gene changes in people with chronic sinus infections to healthy people. This study could help us learn more about chronic sinus infections. It could also help us better treat them.

December 2014

Drug and Gene Interactions, Heart Disease

Hypertension means high blood pressure. High blood pressure is when pressure in your arteries stays higher than it should. Arteries carry oxygen-rich blood to the body. Pulmonary hypertension (PAH) is a special type of high blood pressure. This type affects the arteries in your lungs and the right side of your heart. The right side of your heart pumps blood through the pulmonary artery to the lungs to get oxygen. The left side then pumps oxygen-rich blood to the body. In PAH, the pressure build-up causes the right side of your heart to work harder. Over time, this makes the heart muscles weak to the point they stop working. Lots of things can cause PAH. Blood clots, lung and heart diseases, AIDS, high altitudes and certain drugs are examples. Scientists in this study are focusing on PAH caused by certain drugs. Drugs like cocaine can cause PAH. But PAH can also be a side effect of some prescription drugs. Not everyone who takes those drugs will develop PAH. So, scientists think that genes may play a part in who gets PAH after taking the drugs. The scientists will find out how often certain prescription drugs cause PAH. Then they will look for patients who took those drugs. They will check if any of those patients developed PAH. They will use BioVU to look for gene changes in those patients. They will compare them to the genes of patients taking the same drugs that don't get PAH. They hope to find a link between gene changes and PAH caused by these drugs. This study may help us understand more about PAH caused by certain drugs. It may also help doctors better treat patients at risk for PAH.

Genetics of fevers

December 2014

Genetics of a gene family

A fever is a higher than normal body temperature. It is usually a sign that something is not right. Infections can cause fevers. But many other things can also cause fevers. Some of these are injuries, drugs, poisons, diseases, and even cancer. Different people respond in different ways to fevers. Scientists think that genes may play a role in how our bodies deal with fevers. But, we don't know which genes those are. They also think that certain gene changes may affect how fast you get over a fever. Scientists in this study found some genes that might be linked to fevers. They will use BioVU to test for links between these genes and fevers. They will also look for a link between these genes or gene changes and other things. These include inflammation, high blood sugar, high blood pressure, high cholesterol, or heart disease. This study could tell us which genes play a part in fevers. And, it could help us understand more about how we recover from fevers. It may also tell what roles these genes might play in other diseases.

November 2014

Genetics of heart disease

A gene family is a group of genes that make similar proteins. These proteins often do similar jobs in the cell. Vanderbilt scientists are studying one specific family of genes. This family is special, because it may help fight viral infections. HIV is a virus that causes AIDS if left untreated. The scientists will use BioVU to look for patients with changes in this gene family. They will check if they have any diseases. They will look for a link between any of the gene changes and a disease. They will also use BioVU to find patients with HIV that have changes in these genes. People with HIV can also have other diseases. They will check for links between the gene changes and other diseases in the patients with HIV. This study could help us learn how gene changes in this family play a role in certain diseases. The project may also help us understand why some HIV-positive patients get certain diseases. This could help us better treat patients with these diseases.

October 2014

Genetics of heart failure

Heart Disease (HD) is the leading cause of death for both men and women. About 1 in 4 people die each year from HD in the United States. HD is usually treatable with surgery and/or medications. HD is often related to a buildup of plaque in the arteries of the heart itself. Plaques are mostly made of fats, cholesterol, and dead white blood cells. Plaques build up in the arteries. There are several types of heart disease. The most common are: Heart attack (myocardial infarction): when a blood clot cuts off blood to part of the heart muscle. When that happens, part of the heart muscle dies. Heart failure: means the heart does work like it should. Heart valve problems: when heart valves don't open or close like they should Irregular heart beat (Arrhythmia): when your heart beat is not normal, or irregular Stroke: when a blood vessel that goes to the brain gets blocked Angina pectoris (or angina): a fancy way of saying chest pain or tightness in your chest. Changes in certain genes may play a role in your risk for heart disease. Scientists in this study already linked changes in one gene and angina. Now, they will use BioVU to look for people with the same gene changes. Then they will look to see if people with those gene changes have other types of HD. This information could help doctors figure out who is at risk for HD. It could even lead to new ways to prevent or reduce heart disease.

October 2014

Genetics of endometriosis

Heart Failure (HF) affects more than 5 million people in the United States. HF means that the heart isn't working like it used to. When this happens, your body doesn't get enough oxygen or nutrients. Blood is not pumped out as well as it should. This can cause blood to back up into your organs and cause swelling. Most of the time, HF is managed by a healthy lifestyle and/or prescription drugs. The good news is that survival has increased for people with HF. The bad news is 1 out of 2 people still die within 5 years after diagnosis. In 15 years, we think that over 6 million people will have HF. "Heart events" often lead to HF. Heart attacks, high blood pressure, and heart disease can all cause HF. Heart disease is hardening of the arteries that supply blood to the heart. There are two categories of HF. In the first group, the left side of the heart doesn't pump with enough force as it should. The left side of the heart is the side that pumps blood with oxygen to the body. High blood pressure or heart disease can cause this type of HF. In the other group, the left side of the heart does not fill like it should. This is because some or all the heart walls get "thick." In this type of HF, the thick walls cannot relax enough to fill that side of the heart. Sometimes changes in our genes can increase our risk for getting a certain disease. Scientists in this study will look for patients who have had a "heart event." They will check for a link between certain gene changes and those that get HF. They will also look to see if certain gene changes link with only one type of HF. This information could help doctors figure out who is most at risk for HF. It could even lead to ways to prevent getting HF after a "heart event."

September 2014

Genetics of atrial fibrillation

Endometriosis occurs when cells that line the uterus start to grow outside the uterus. This tissue acts like normal tissue in the uterus. It gets thicker, breaks down, and bleeds each month. When this happens, it has no way to exit the body. This can cause problems and pain. It can also cause fertility issues. It affects about 1 in 10 women ages 15 to 50. About 1 in 3 women who can't have children develop this. We usually treat it with drugs or surgery. Risk factors include never giving birth and certain medications. Pelvic surgery scarring and history of pelvic or uterine infections can also increase risk. Early studies suggest certain gene changes may also be a factor. Researchers will use BioVU to look for links between genes and endometriosis. They will also look for specific gene changes in women with this disease. This research may help us better predict who is at risk. It may also lead to better ways to treat or prevent endometriosis.

September 2014

Gene changes that may cause cancer in cells that make new blood cells

Atrial fibrillation (AF) is a type of abnormal heartbeat. It means the heart beats faster than normal and not in a regular rhythm. People who have AF may not feel symptoms. Other people may have chest pain or heart failure. AF can also increase the risk for blood clots or stroke. Early treatment is key. This keeps your heartbeat under control and reduces other problems. Some risk factors for AF include being overweight, older, and having high blood pressure. Genes can also play a role in AF. Researchers in this study will test if adding genetic information to the other risk factors better predicts who is at risk for AF. This could help us catch it earlier or do a better job of slowing down the disease.

August 2014

Genetics of stress in children exposed to certain steroids before birth

Bone marrow is the soft, inner part of the bone. Bone marrow cells form new blood cells. Changes in some of the genes in these cells may cause cancer. At this time, we are starting to learn about the gene changes that cause blood cell cancers. Researchers will use BioVU to find healthy patients who later developed chronic myelogenous leukemia (CML). CML is a blood cancer that starts in the bone marrow. They will look for changes in certain genes before they got sick. They will also check how well some of these patients responded to certain drugs. Researchers will also look for patients with other blood cell cancers. They will check for gene changes in their cancer cells. Knowing the gene changes might help us find new drugs to treat those cancers.

August 2014

Other, Women and Health

Glucocorticoids (GCs) are steroids produced by your body. These reduce swelling in your body and help us use the nutrients in foods. GCs also play an important role in fetal growth. If a woman is at risk for giving birth too early, she is sometimes given GC drugs. These speed up organ development in the fetus. GCs are also released as a normal response to stress. Our bodies turn certain genes involved in our response to stress on or off as needed. Our environment and other factors also affect turning these genes off and on. Researchers in this study will look at the genetics linked to stress. They will compare children exposed to GC drugs before they were born and those that weren't. They will look for how their bodies turn on and off certain stress related genes. Researchers think that children exposed to GC drugs before they were born do not deal as well with stress. The results of this study could help us learn more about how stress affects pregnancies. This could help us better treat women with high stress pregnancies.

Gene changes linked to addiction

June 2014

Protein change in Parkinson’s Disease

People can develop addiction to both drug and alcohol. This is a major public health problem in the U.S. About 1 in 10 Americans need treatment for drug or alcohol problems. Only 1 in 100 people get help. But, addiction is very strong, and many people relapse, or go back to drugs or alcohol even after getting treatment. We do not know a lot about why some people become addicted. Proteins linked to learning and memory of rewards may play a role. Researchers will look for a link between these gene changes and people who have addiction to drugs or alcohol. There are now some medications that can help with addiction but these are not effective for all drugs of abuse. In the lab, these drugs can block the learning involved in the reward pathway. This stops the drug-seeking behavior in animals. Researchers hope this study will help find something similar for humans.

June 2014

Risk factors for developing high blood pressure in the pulmonary artery

Parkinson's disease is a disorder of the nervous system that affects movement. It starts slowly, but continues to get worse with time. At this time, there is no cure. Drugs can help control the symptoms, such as muscle tremors or stiffness. Over time, these drugs may stop working. They can also cause side effects. Uncontrolled muscle movement is a common side effect in some people. The medical word for this is dyskinesia. Some people with Parkinson's disease have a specific change in a brain protein. This protein helps nerves regrow. Patients with the protein change often suffer dyskinesia sooner than other patients. Deep brain stimulation (DBS) helps improve muscle symptoms. It also decreases this common drug side effect. But, we are not sure how DBS works. Researchers in this study think DBS works by increasing the amount of this brain protein. They will look for patients with Parkinson's that have the specific protein change. Then they will check if those patients need DBS. They hope to find a link between the protein change and needing DBS. This might help doctors to know which patients will benefit most from DBS.

May 2014

Diabetes, Heart Disease

The pulmonary artery is the blood vessel that takes blood from the right side of your heart to your lungs to get oxygen. If the pressure in that artery builds up, you could get pulmonary arterial hypertension (PAH). This disease can cause heart failure and death. Knowing the risk factors for this disease could help prevent it. Or, it could help get PAH under control early. Metabolic syndrome is the name for a group of risk factors that could lead to heart disease, stroke, or diabetes. People who have this disease are often overweight, have high blood pressure, and high cholesterol. These are risk factors for heart disease and stroke. Some people with metabolic syndrome also have insulin resistance. Insulin resistance means your body does not handle sugar in the blood normally. This can lead to diabetes. Researchers will look for a link between risk factors for metabolic syndrome and those for PAH. They think that people who are insulin resistant and overweight might also be at risk for PAH. Using BioVU, they will look for a link between insulin resistance and PAH. A link could mean that some of the successful treatments used for metabolic syndrome could help treat PAH.

Gene differences linked to statin response in black patients

New tool for finding gene differences linked to disease

Heart disease is the leading cause of death in the United States. Statins are drugs that help prevent heart disease. These drugs lower the "bad" type of cholesterol (LDL) in the blood. Differences in our genes, called variants, affect how well statins work. But most of these gene variants have only been studied in white patients. Different genes may be involved in other ethnic groups. Using BioVU, Vanderbilt scientists will look for variants in black patients taking the statin simvastatin. They will study how these variants affect how well the drug works. The findings may help us better prevent heart disease in these patients. The results may also lead to new ways to treat heart disease.

Gene differences may cause high blood sugar after heart attack

People have many differences, or "variants," in their genes. Some variants may affect whether a person gets a certain disease. A PheWAS is a type of study done to look for these variants. We first find people with specific variants. We then see what diseases or conditions these people have. Vanderbilt scientists are creating ways to improve these kinds of studies. They have made a tool that pulls together related conditions from medical records. They will first test this method on variants known to cause disease. This will show if the tool works. Then, they will test the tool on variants that are not linked to any diseases. These genes do many important things in our cells. So, the researchers think variants in these genes may be linked to many different diseases. This study will help us find new gene variants involved in disease.

Finding new uses for anti-inflammatory drug

Stress prompts the body's "fight or flight" response to kick in. This releases chemicals that increase blood sugar. This condition is common after a sudden illness like a heart attack. Patients with this problem are more likely to die than patients without this problem. Slight differences (variants) in a gene involved in the "fight or flight" response are linked to this condition. Vanderbilt researchers have found that people can have 5 different patterns of these variants. One particular pattern may make a patient more likely to have this problem. In this project, the researchers will use BioVU to find patients with this pattern of gene variants. They will look at how often these patients get high blood sugar after a heart attack. Then they will compare these patients with patients who have other patterns of variants. This research could help us determine who is at the most risk of this dangerous stress effect.

Genes and long-term health outcomes

Inflammation is how the body heals an infection or injury. Swelling, redness, and pain are signs of inflammation. But sometimes this happens even when there is no infection or injury. This is the case in conditions like arthritis. PDE4 is a protein. It does many things in the body. One of its main jobs is to promote inflammation. Apremilast is an anti-inflammatory drug. It is approved to treat a type of arthritis. This drug stops the protein PDE4 from working. So, this drug may help treat many types of inflammatory conditions. Vanderbilt scientists are looking for conditions linked to PDE4 and similar genes. This may tell us if apremilast can help treat other conditions. They will also look for new genes linked to these conditions. These findings may lead to new treatments.

Genetics of heart disease

Researchers in the Vanderbilt Genome-Electronic Records (VGER) project are studying how electronic medical records (EMRs) linked to patient DNA samples can help us understand how genes affect disease. This project will study how genes affect disease outcomes and drug responses over long periods of time. Information about outcomes and drug responses are noted in patients' EMRs. These records are linked to the patients' DNA samples in BioVU. This allows the researchers to look for combinations of gene changes that might make patients respond differently to treatments or that affect how a disease may progress. The results of this project may improve patient care by giving doctors better information about how a certain patient's disease may progress or how they might respond to drugs over a long period of time.

Using genetics of Protein S to predict blood clots

Heart disease is a leading cause of death. Often resulting from a buildup of sticky "plaques" in the arteries, these plaques can harden and narrow your arteries. Eventual blockage results in a heart attack or stroke. The protein SPRR3 helps keep your arteries healthy and when this protein doesn't work, it can lead to heart disease. Vanderbilt researchers will use BioVU to look for a link between changes near this gene and heart disease.

Gene change may increase risk of diabetes in pregnant women

Blood clots can form in veins and arteries. Clots can sometimes break off and travel to the lung. This is a very serious condition. It happens to about 2 million people in the United States each year. Smoking, high blood pressure, and taking hormones can increase your chances of these blood clots. Genetics can also play a part. Protein S is a protein in your body that controls blood clotting. In some people, this protein does not work as well as it should. This can be due to changes in the gene for this protein. People with these gene changes are more likely to get blood clots. One specific change is found in some black people. This change is not common in white people. An earlier study found that black people with blood clots in the lung had this gene change more often than those who did not have blood clots. Vanderbilt researchers hope to confirm this gene change linked to these blood clots. They will use BioVU to to look at the gene change in black people with the blood clots and compare with black people who don't have blood clots. The findings may help us predict and prevent dangerous blood clots.

Clues to extreme obesity in your ancestors’ DNA?

Diabetes is when you have too much sugar in your blood and not enough insulin or when the body cannot sense insulin. Insulin is a hormone that helps control your blood sugar. Diabetes affects many people including women during pregnancy. Insulin is released from the pancreas into the blood upon signals from the nervous system. Researchers have found mutations in one of the genes involved. Mutations in the ADRA2A gene reduces insulin release. Using BioVU, they will see if changes in this gene make a pregnant woman more likely to get diabetes.

Finding new cases of a rare brain condition

Obesity means having too much body fat. People who are very obese are more likely to have serious health problems. These include diabetes, heart disease, and dying early. Many things can cause obesity. Eating too much and not getting enough exercise are important causes. But our genes can also play a part. Mitochondria are tiny structures inside each cell of your body. They make the energy your cells need. These structures have their own set of genes. People have differences in these genes. Some of these differences are inherited as a set called a haplogroup. People with the same ancestry often have the same haplogroups. Researchers at Vanderbilt found a link between a certain haplogroup and being very obese. They will now use BioVU to confirm these findings. They will also look for links between haplogroups and gene changes linked to obesity.

Analysis of cancer gene chip for the Ovarian Cancer Association Consortium

D2-HGA is a rare condition that affects the brain. It usually shows up in young children resulting in growth delays, seizures and weak muscle tone. These signs get worse over time. This can cause severe disability or even death at a young age. Changes in either one of two genes can cause this condition. These changes can affect the proteins these genes make. Sometimes, the changes damage the protein. But, sometimes the protein changes are minor. In these cases, the symptoms can be mild and it is likely that many more people have this condition. Vanderbilt researchers will look for gene changes in people who have symptoms of D2-HGA. This study will give us a better idea of how many more people may have this condition and could help doctors be able to treat these people.

Gene changes linked to cancer and other diseases

Ovarian cancer is the fifth leading cause of cancer death for women. By the time most women know they have it, they have less than 5 years to live. Most ovarian cancers involve the cells that make up the surface of the ovaries. We know that ovarian cancer runs in families. However, we don't know many of the genes involved. The Ovarian Cancer Association Consortium (OCAC) is a group of scientists and doctors studying ovarian cancers. Many of them are trying to find out the genes linked to ovarian cancer. OCAC has found 6 sections of DNA and some genes that might be linked to ovarian cancer. Scientists in this project are going to use BioVU to look for those DNA sections and genes in patients with ovarian cancer. They will use a new cancer "gene chip" to do this. They will look at the genes of patients with ovarian cancer and compare them to those who don't have it. They will also look at how long the cancer survivors live. They think genes might make a difference in survival.

Gene Differences and Ovarian Cancer Treatment

The p53 protein, made from the TP53 gene, works to protect cells from out-of-control cell division resulting in cancer. Although p53 is associated with cancer, it belongs to a family of genes that have many roles in the body. Researchers hypothesize that other diseases may be caused by mutations in these other genes. By looking at gene changes in adults and children, this study will help us find new gene changes that could be important in many diseases.

Gene changes linked to gallstones

Ovarian cancer is the most deadly cancer of the female reproductive system. A woman's genes may affect how a woman with ovarian cancer responds to treatment and how long she lives after ovarian cancer. Genes may also affect how well certain drugs work to treat ovarian cancer. This study will look for those genes. The results may show which treatments work better for women with certain gene differences. Vanderbilt scientists will use BioVU to look for gene differences in women with ovarian cancer.

DNA differences and disease

Gallstones are hard particles that form in the gallbladder. They cause problems when they block bile ducts. These ducts carry fluid between your liver and other organs. Many people get gallstones and mutations in certain genes may make a person more prone to getting them. Researchers at Vanderbilt are using BioVU to find gene changes linked to gallstones with the goal to understand why some people get gallstones.

Gene changes linked to Vitamin D levels

Your DNA contains instructions for making RNAs and proteins. RNAs and proteins do many jobs in the body. But only a small part of your DNA contains these instructions. People have many differences in their DNA. These differences are called variants. Some variants might affect whether you get a disease. Vanderbilt scientists are looking for variants in the "instruction" parts of DNA. They will look for links between these variants and diseases. They will also study how groups of variants affect disease. The study may help us find variants important in disease. They may also help us treat diseases based on a person's unique DNA.

January 2014

Gene changes linked to delirium caused by infection

Vitamin D is an essential vitamin that promotes bone and heart health. Many people don't get enough of this vitamin. Low vitamin D levels have been linked to diseases like cancer and diabetes. In addition to the sun, vitamin D can be absorbed from food or vitamin supplements. Vanderbilt researchers hypothesize that mutations in our genes may be partly responsible for the way people produce or respond to vitamin D supplements. The results of this study may help us better treat or prevent disorders linked to low vitamin D.

January 2014

Gene changes linked to non-cancer skin growths.

Sepsis is a potentially life threatening response to infection. Sepsis occurs when chemicals released by the body to fight infection trigger inflammation and other changes in that body that lead to organ damage. Sepsis can cause a patient to be confused and restless or drowsy, a condition called delirium. Roughly 3 out of 4 people with sepsis get delirium. It is linked with longer time in the hospital as well as problems with thinking, including memory and attention, after you leave the hospital. These problems can last a few months or many years. We do not know much about how sepsis causes delirium. The goal of this project is to learn more about delirium caused by sepsis. In sepsis, your cells may have problems making energy. Mitochondria are the parts of the cell that help us make energy. Mitochondria have their own DNA, called mitochondrial DNA (mtDNA). Variations in mtDNA have been linked to whether a person recovers from sepsis. This project is going to look at that mtDNA from BioVU. We want to find out if variations in mtDNA are linked to delirium caused by sepsis. Different people have different mtDNA. Some people might get delirium; others might not. The scientists will check to see if different mtDNAs are linked with delirium. These differences might also tell us how long the delirium will last.

November 2013

Gene changes linked to successful weight loss surgery

Seborrheic keratosis (SK) is a disease that causes extra skin to grow. SK can look like skin cancer, but it is not cancer. It can affect people of any age. The growths can sometimes look like warts. Sometimes SK can be darker in color than your normal skin. It can cost a lot of money to figure out if someone has SK or skin cancer. Scientists in this study found a gene they think is linked to SK. They are using BioVU to look for changes in that gene in younger people to prove it is linked to SK. Changes in that same gene have been linked to skin cancer. Changes in that gene are also linked to a higher chance of getting other cancers. Scientists are also looking for a correlation between more changes and worse disease. Scientists will also look for other genes that might be linked to SK. The results might make it easier for doctors to figure out if someone has SK or skin cancer.

November 2013

Diabetes, Obesity

About 1 in 5 adults is very overweight. The only way for most of these people to lose weight is surgery. Not everyone can get the surgery. It costs a lot of money, and there are not enough surgeons. Also, any surgery has a small chance of something going wrong. This project is looking at a special kind of weight loss surgery called Roux-en-Y gastric bypass (RYGB). In this surgery, they redo the "plumbing" to shrink the stomach and skip part of your small intestine. The surgery helps people lose weight in more than one way. With a smaller stomach, you can't eat as much. You also don't take in everything from the food you eat. After surgery, people don't feel as hungry. They also don't have as many food cravings. Blood sugar levels were also better after surgery. These are all good things and help you lose weight. Doctors aren't sure why these other changes happen. One gene change is linked to weight loss after RYGB. Scientists in this study will first confirm that gene change. Some don't lose weight after surgery. So, the scientists will then compare the genes of people who do lose weight after RYGB to those who don't. The difference in genes might tell us why some people don't lose weight after this surgery. The scientists think that different genes are involved in the new changes after surgery. This could help scientists figure out new ways to help people lose weight.

Gene changes linked to high blood pressure

Gene changes linked to heart function in patients with enlarged hearts

High blood pressure, also known as hypertension cause 13.5 % of deaths around the world. Many people suffer for a long time with this disease. It costs a lot of money for patients and taxpayers. It can also lead to other problems, such as heart attacks and strokes. Black people have higher rates of high blood pressure than do white people. High blood pressure in blacks is often worse and starts at a younger age than in whites. Drugs can help treat high blood pressure, but current drugs are not enough in about half the people. Scientists have found genes that might be involved in how well these drugs work. A change in one of these genes is more common in black people than white people. Scientists think this might explain why the drugs don't work as well in some black people. This project is going to look at people with high blood pressure that is not controlled well by drugs. They will use BioVU to find genes that might be involved in this. They will look at the two genes found in the earlier study and other genes nearby.

Gene changes linked to autonomic dysfunction syndromes

Cardiomyopathy is a heart disease that causes your heart to get weaker and larger. There are several forms of this disease. Over 80 different genes have been linked to forms of this disease that run in families. But, not everyone who has changes in those genes has the disease . We don't know yet how these gene changes affect the disease. You may need to have several of these gene changes to get the disease. And some gene changes may not be truly linked to the disease. This project is going to use BioVU to test if the gene changes we think cause cardiomyopathy are actually linked to the disease. They will also figure out if those gene changes predict the risk of other people getting this disease. Finally, there are some gene changes we don't understand. The scientists are going to find people who have these "unknown" gene changes. Then they will look at what diseases they might have to see if there is a link between the genes and any of their diseases.

Genetic predictors of cancer

Multiple system atrophy (MSA) is a rare disease that causes things like blood pressure, heart rate and digestion not to work very well. These are things that are "automatically" controlled. It usually occurs in people in their 50s and 60s. It continues to get worse once it starts. Patients usually die from MSA 4 to 7 years after it begins. Right now, there is no cure. We can give drugs to help with the symptoms. We don't know the cause of MSA. Scientists in Japan and Germany found that it can run in families. That makes us think genetics are involved. Scientists in this project want to look at all gene changes in people with MSA in BioVU. They will look to see if there are any common gene changes that might cause MSA. One Japanese group found a particular gene that might be involved. Scientists in this project will also look for changes in that gene too.

Gene changes and lab values in diabetes in black patient populations.

Some diseases are caused by single, specific gene changes or mutations. But these kinds of mutations are very rare. Most common, complex diseases like cancer probably involve many genes. Scientists have found many common gene variants (slight differences in a gene people may have) linked to cancer. These variants occur in many people. But their effect on disease risk is small. So these variants do not explain why so many people get cancer. In this project, researchers will search for variants that are uncommon, but have a moderate effect on disease. Earlier ways of looking for disease genes have not been able to detect these kinds of variants. This project will use a new gene "chip" method and large groups of patients. The researchers will look for variants linked to prostate, breast, and other common cancers. Finding such gene variants will help doctors counsel patients about their cancer risk.

July 2013

New tools to search for diseases linked to gene changes

Diabetes is a condition in which your blood sugar is higher than normal. There are many types of diabetes. The most common type is called type 2 diabetes (T2D) which usually occurs later in life, mostly in adults. More and more Americans are getting T2D. "Non-white" Americans are more likely to have T2D than white Americans. T2D has been studied a lot in white populations. Several genes are known to increase the chance of having T2D in this group. Many other genes, currently unknown, may also be linked to T2D or high blood sugar. Blacks and other "non-white" groups have not been studied very much. The scientists in this project have found some genes that seem to contribute to high blood sugar in blacks. They showed that some of the same genes they found in white populations also occur in black people. They have also found that some gene changes seem to affect blood sugar in blacks but not in white populations. The scientists' goal is to use BioVU to confirm that the new gene changes they found in blacksindeed contribute to high blood sugar. The scientists will then combine findings from BioVU with findings they get from other populations (e.g., white, Asian). Combining findings from different populations will increase the chance of discovering genes that truly contribute to diabetes.

July 2013

Genetic factors linked to kidney cancer

To find genes linked to disease, researchers often study the genes of people with a particular disease. They look for gene differences (variants) between people with the disease and people without the disease. Variants that show up more often in people with a disease are "linked" with that disease and studied further. This project does the reverse. Gene information in BioVU is linked to disease information in electronic medical records. This allows researchers to find patients with certain gene variants and look to see what diseases or conditions they may have. This offers a new way to discover links between genes and disease. This project may also provide clues about the possible common origins of multiple diseases.

May 2013

The Genetics of Prostate Cancer

Renal cell cancer is the most common type of kidney cancer. Kidney cancer often runs in families. If you have a close relative (a parent, sibling, or child) with kidney cancer, your chances of getting the disease are higher. One study found 4 parts of the genome (loci) linked to kidney cancer. These loci are just sections of DNA. They did not find specific genes linked to the disease. Vanderbilt researchers will use BioVU to add to this earlier study. They will look for new genes linked to kidney cancer. They hope to also find how genes and environmental factors interact to affect kidney cancer. They will also look for genes that affect how long a patient with kidney cancer survives.

May 2013

Genetic predictors for uterine prolapse in women

Prostate cancer is one of the most common cancers in men. It most often occurs in men over age 65. This cancer is more common in black men than white men. Studies have found more than 30 gene changes (variants) associated with prostate cancer risk. But these variants only account for a small part of a man's risk for prostate cancer. More genes are likely involved. In this project, researchers will use BioVU to study gene variants associated with prostate cancer. They will compare the DNA of men with prostate cancer to healthy men. They hope to confirm the variants identified in earlier studies. Their findings will be combined with data from other research groups. This may help to identify new gene variants associated with this cancer.

April 2013

Genetics of common cause of diabetes-related blindness

Pelvic organ prolapse is a common disorder for women in which organs inside the pelvis herniate, or drop, into the vagina causing a vaginal bulge. These organs include the uterus, bladder, bowels and rectum. This can cause problems with bladder and bowel function. Pelvic organ prolapse happens when the muscles and tissues supporting the pelvic organs get weak. Giving birth and getting older can cause this weakening. Certain genetic factors may also make you more likely to get this condition. Using BioVU samples, researchers will compare the DNA of women with and without prolapse. They will look for slight changes in genes (variants) in women with prolapse. They will also see if factors like age and body weight affect a woman's risk of pelvic organ prolapse. The results could help doctors predict which women may get pelvic organ prolapse. Doctors could then counsel these women on how to prevent or best treat the condition.

March 2013

Eye Disease

If you have diabetes, you have too much sugar in your blood. Over time, this can damage the eyes. Diabetic retinopathy (DR) is the most common eye problem in people with diabetes. This involves damage to the tiny blood vessels in the back of the eye (retina). This is a leading cause of blindness in Americans. There are two different types of DR. The proliferative type is more severe than the non-proliferative type but both can cause blindness. Right now, we can't predict who will develop this problem. Genes play a role in a person's risk of getting this serious condition. Vanderbilt researchers have found that certain sets of gene changes, called "haplotypes," are linked to the more severe form of this eye disease. They will also look for genetic differences between patients with this eye disease and diabetic patients without the eye disease. The findings could help us predict which patients are at risk of DR. Doctors may then be able to slow or prevent this condition.

Genetic causes of keloids raised spreading scars found mainly in people of African Asian and Hispanic descent.

March 2013

Genetic factors linking calcium and breast cancer’s growth and spread

Keloids are thick raised scars that spread beyond the original wound. These scars can cause pain and itching. They can also be disfiguring. This can affect a person's quality of life. There is no good way to treat keloids once they have formed. We do not know why some people are more likely to get keloids. Keloids tend to run in families and some ethnic groups. The tendency to form keloids is found mainly in people of African, Asian, and Hispanic descent. Individuals of African ancestry are 20 times more likely than individuals of European ancestry to get keloids. This project will use BioVU to look for genetic factors linked to keloids. Researchers will first look for genetic changes (variants) in African Americans with keloids. They will then compare the variants found in this group with other ethnic groups. The findings will help us better understand what causes keloids. This could help us find new treatments.

January 2013

Gene variant associated with low triglyceride levels may protect carriers from heart disease

Breast cancer is the most common type of cancer in women. These tumors often spread to the bone. Substances produced by the tumor break down bone. This causes an increase in calcium levels in the blood. This calcium increase can sometimes be the first sign of the cancer. Studies have linked bone diseases to changes in a protein that keeps the amount of calcium in the body in balance. Slight changes (variants) in the gene for this protein can cause increased calcium levels in the blood. High calcium levels can cause cancer cells to grow and spread more quickly. We do not yet know how these changes may affect breast cancer. This project will study the link between these gene variants, calcium levels and breast cancer progression. The researchers will look for these variants in the BioVU DNA samples from breast cancer patients. They will then look at their medical records and lab tests. They hope to see if women with these variants have higher calcium levels. They will also be able to see if the cancer in these patients grew or spread faster than in women without the variants. The results may help us predict whose breast cancer may grow or spread faster. The findings can also help guide doctors in how they treat these cancers.

August 2012

Search for new genes linked to late onset Alzheimer’s disease

Coronary artery disease (CAD), or heart disease, is the leading cause of death in Americans. In CAD, cholesterol builds up inside the arteries. High levels of cholesterol in your blood put you at risk of having heart disease. Other substances in your blood, like triglycerides, also increase risk. Triglycerides are fats found in the blood. Some people, though, have very low triglyceride levels. This may protect them from heart disease. Researchers are looking for the differences (variants) in genes associated with low triglyceride levels. One study found a variant associated with very low triglyceride levels in Amish people. We do not yet know how common this variant is in other groups of people. We also do not know if people with this variant are less likely to have heart disease. This project will look for patients with very low triglyceride levels in BioVU. The researchers will see how many of them have this variant. They will also see if these patients have any evidence of heart disease in their medical records. The findings could tell us if this gene variant truly protects against heart disease in the broader U.S. population.

August 2012

Genetic risk factors for heart attack in black patients

Alzheimer's disease is a brain disease that causes a slow loss of memory and thinking skills. It is called late-onset Alzheimer's disease, or LOAD, when the disease occurs in someone older than 60. One in every 8 people over age 65 has LOAD. We do not fully understand why people get LOAD. Only one gene has been strongly linked to the condition. There are likely many other genes involved. Vanderbilt researchers are looking for new gene changes (variants) that may increase a person's chance of getting LOAD. In this project, they will study BioVU DNA samples from patients with LOAD. They will test these samples for more than 200,000 variants. They will compare the variants found in LOAD patients with those found in healthy patients. This will show which variants may cause the disease. The results may reveal new genetic factors that lead to Alzheimer's disease. This information could help doctors predict which patients might be likely to get this disease.

May 2012

Predicting risk of abnormal heartbeat after surgery

Heart disease is the leading cause of death for Americans. Many things can increase your chances of getting the disease. Levels of lipoproteins in your blood affect your risk of heart disease. Lipoproteins carry cholesterol and other substances through the blood. The genes you inherit from your parents may play an important role. Vanderbilt researchers have studied genetic risk factors for heart disease in a large group of patients from all over the country. They found several gene differences (variants) that affect a person's lipoprotein levels. Five of these variants were also associated with heart attack in black people. In this project, the researchers will try to confirm the link between these variants and heart attack in a new group of patients. They will test BioVU samples from black patients for these variants. They hope to see if the same variants are associated with heart attacks in these BioVU samples. The results may tell us what genetic factors increase the risk of heart disease in blacks. The findings may also suggest new ways to prevent or treat the disease.

May 2012

Predicting drug response in patients with rheumatoid arthritis

Atrial fibrillation (AF) is a type of arrhythmia, or abnormal heartbeat. More than 2 million people in the United States have this condition. If AF is not treated quickly, it can be deadly. It can lead to strokes, heart attacks, or heart failure. Many conditions can make a person more likely to have AF. These include high blood pressure, obesity, heart disease, and diabetes. Some genes also play a role in AF. Many people develop AF after having heart surgery. Patients with this type of AF may have to stay in the hospital longer. This form of AF can also be deadly. Vanderbilt researchers have come up with a way to predict who may get AF after surgery. The score is based on the patient's genes and other risk factors (like other diseases that make AF more likely). This score tells us how likely a patient is to have AF. This project will use BioVU samples and medical records to see how well this prediction score works. The researchers will also look for new genes linked to AF. Finding more genes could help help us predict who is at high risk of AF after surgery.

March 2012

Genetic basis of dilated cardiomyopathy, a disease that enlarges and weakens the heart

Rheumatoid arthritis (RA) affects nearly 1 in 100 adults. The disease causes pain, swelling and stiffness in the joints. RA happens when your immune system attacks and destroys your own joint tissue. This damage happens early in the disease process. It is important to start treatment early to prevent this damage. Some drugs for RA stop the immune system from attacking and destroying the joints. Several of these drugs block a chemical in the blood called TNF (tumor necrosis factor). TNF is made by the immune system and is involved in attacking the joint tissue. Right now, there is no way to predict if anti-TNF drugs will work for a patient.In this project, researchers will identify RA patients who were helped by anti-TNF drugs. Using BioVU DNA, they will then look for genes linked to the patients' responses to the drugs. The results may allow us to predict which patients will be helped by anti-TNF therapy. Knowing this may help doctors choose treatments that are more likely to work for an individual. Better, earlier treatment can help prevent joint damage.

February 2012

Links between disease and genes in the cell’s energy factory

Cardiomyopathy is a disease of the heart muscle. In dilated cardiomyopathy (DCM), the heart gets enlarged and weaker. This causes it to not pump blood properly. Changes (variants) in dozens of genes can cause DCM. But most cases of the disease cannot be explained by these mutations. DCM often runs in families. A recent study found a gene variant linked to DCM in one family. The gene codes for a protein that binds to RNA. (If DNA is like an instruction manual for making our whole body, RNA is like a photocopy of one page of the manual, with instructions on how to make just one part of the body.) In this project, researchers will use BioVU to find other patients with DCM. They will then look to see how common this variant in these patients. The findings will tell us how important this variant is to this disease. That may help us be able to better predict who is at risk of DCM.

January 2012

Genes linked to uterine fibroids and their severity

Mitochondria are tiny structures inside each cell of your body. They make the energy your cells need. These structures have their own set of genes. People have differences in these genes. Some of these differences are inherited as a set called a haplogroup. People with the same ancestry often have the same haplogroups. Europeans have 9 main haplogroups. Africans have 4 main haplogroups. Scientists have found links between haplogroups and many diseases. But most studies have just looked at people with European ancestry. In this project, researchers will try to figure out a patient's haplogroup from BioVU DNA samples. They will look for the usual European and African haplogroups. Then they will look for traits linked to these haplogroups.

January 2012

Role of the body’s internal clock genes in diabetes and obesity

Uterine fibroids are benign tumors that grow in the womb. They are very common among women in their childbearing years. Nearly 8 in 10 women in the United States will have fibroids at some point. Often, fibroids do not cause any problems. But for some women, fibroids can cause heavy bleeding, pain, or problems having a baby. We don't know what causes fibroids, but they tend to run in families. This suggests there are genes that may make a woman more likely to get fibroids. There have not been many studies on the genes linked to fibroids. BioVU has DNA samples from thousands of women with fibroids. This project will test for genes that may be linked to fibroids. BioVU also has information about how big a woman's fibroids are and how many she has. The researchers will also look for genes that relate to these factors. The results could help us predict which women may get fibroids and how bad they will be. This could suggest ways to prevent or possibly treat this common condition.

November 2011

Gene variants associated with autoimmune diseases in white and black patients

Many body processes, like sleeping and eating, have daily (circadian) cycles. These patterns are controlled by the body's internal "clock" system. Many genes are involved in this clock system. Studies in mice have found that deleting certain clock genes can lead to obesity. A recent study linked sleep and diabetes in humans. These findings suggest that our circadian clocks may play a role in some diseases. Vanderbilt researchers are searching for slight differences (variants) people have in these clock genes. These slight differences may influence a person's metabolism (how the body gets energy from food). So far, they have found 40 variants in 10 different clock genes. These variants are common in Americans. Using BioVU, they will now look for links between these variants and traits related to obesity and diabetes. The results may help us develop new treatments for diabetes and obesity. These could involve new drugs or simple behavior changes to combat these conditions.

November 2011

Genes linked to abnormal heartbeat in sleep apnea

Your immune system usually protects you from infection and disease. But sometimes it starts attacking your own body. This is called an autoimmune disease. Crohn's disease, rheumatoid arthritis, and multiple sclerosis are common types of autoimmune disease. Some autoimmune diseases run in families. This suggests that our genes may play an important role in these diseases. Studies have found slight differences (variants) in several genes linked to these conditions. But most of these studies have only been done in white people. We don't know if the same gene variants are associated with these diseases in other groups. In this project, scientists will use BioVU samples to confirm the links previously found in white patients. Then, the researchers will ask if these same variants are associated with these diseases in black patients. They will also ask if these variants interact with each other or other factors.

October 2011

Genes linked to bone breaks in black patients with bone loss

Obstructive sleep apnea (OSA) is a common sleep problem. People with OSA briefly, but, stop breathing while they sleep. This happens because the airways narrow or close during sleep. OSA is often linked to serious heart problems, like atrial fibrillation (AF). In AF, the speed or rhythm of the heartbeat is not normal. AF is common in people with OSA, but we do not know what causes a person with OSA to develop AF. In this project, researchers will search for genes linked with both conditions using BioVU samples. They will also study whether people with more severe sleep apnea are more likely to develop AF. The researchers hope to create a formula, based on a person's symptoms and genes that can predict their risk of AF. The results could tell us which patients with OSA are most likely to develop AF.

August 2011

Finding diseases linked to variants in immune system genes

Osteoporosis is bone loss that causes the bones to be weaker. This makes bones more likely to break. It is most common in older women. The condition leads to broken bones, or fractures, in nearly half of all older women. Osteoporosis may affect some ethnic groups more than others. Studies have found several genes linked to the condition. But most of these studies have focused on white people. This project will look for gene changes linked to osteoporosis in black patients. They will study whether patients with these gene changes are more likely to have bone fractures. They will also try to confirm the genes linked to osteoporosis found by the other studies. The findings may help explain why some ethnic groups are more likely to get bone fractures. This may also help us find ways to prevent these serious injuries.

August 2011

Finding genes associated with common diseases in minority populations

Your immune system protects you from infection and disease. Different people have different versions, or "variants," of many immune system genes. These variants may affect how a person's immune system works. This may explain why some people can fight off disease better than others. This project will look for diseases linked to common variants in immune system genes. Using BioVU DNA samples, the researchers will find patients with variants in these genes. From the medical records linked to these samples, they can find out which diseases go along with these variants. Researchers can then study how these variants affect the body's ability to fight disease, and study whether or not these variations are associated with any disease. This research may help us understand why some people get sick and others don't. It may also help us make better vaccines ("shots") to protect us from some diseases.

July 2011

Gene changes linked to kidney stones in black patients

Large studies have associated differences (variants) in hundreds of genes to different diseases. But most of these variants do not cause the diseases directly. They act as markers. This means that there is a gene near the marker that actually causes the disease. To find those specific genes, scientists have to look closer at the DNA in that region. These markers are different in different racial/ethnic groups. Most of these large studies have looked only in white people. Variants linked to disease in this group are not always found in "non-white" or minority groups. In this project, researchers will look for variants in the BioVU samples from minority groups. They will look for links between these variants and common diseases like cancer and diabetes. The results will help scientists find the gene regions to look at more closely.

July 2011

Gene interactions that influence diabetes, obesity, and weight

Kidney stones are hard objects that form in urine. Most stones pass when you go to the bathroom. But if stones get stuck, they can cause a lot of pain and make you very sick. Some people need surgery to remove them. We don't know why some people are more prone to kidney stones than others. Studies have found several genes linked to different types of kidney stones. A person's ethnic background also plays a role. Black people with Asian background may have lower risk. Blacks with Arabic or West Indian background have a higher risk. In this project, researchers will look for gene changes linked to kidney stones in black patients. They will also try to figure out which gene changes are linked to the patient's ethnic background. The results may tell us who is most likely to get kidney stones. The study may also help us better prevent or treat kidney stones.

July 2011

Diabetes, Obesity

Genes affect many aspects of a person's health. But most studies only look at one gene at a time. How different genes work together, or interact, is also important. Scientists have found genes linked to type 2 diabetes. Genes affect a person's weight or body mass index (BMI). Genes also play a role in the amount and type of cholesterol and other fats (lipids) in your blood. Researchers have started looking for these gene interactions. In a large national study, they found several interactions linked to blood lipid levels, type 2 diabetes, and obesity/BMI. Now, they will use BioVU samples to confirm these gene interactions in a different set of patients. This is important to make sure that these interactions are really linked to these conditions. They will also use BioVU samples to look for new gene interactions.

Gene changes involved in susceptibility to severe staph infection

June 2011

Genes involved in response to cholesterol medication dose

The bacteria that cause severe staph infections live in the noses of many people. If the bacteria get into the blood or other body tissues, the infection can be deadly. These infections are getting harder to treat. Current antibiotics cannot kill these germs. So, we need new ways to fight staph infections. To cause disease, staph needs to take up iron from our blood. Some people may have certain gene changes that make it easier for staph to take up iron from hemoglobin, a substance in our blood that contains iron. In this project, researchers are looking for such gene changes in the DNA samples from BioVU. The results could show which patients are more likely to get severe staph infections. The information may also lead to new ways to prevent or treat these infections.

May 2011

Resistance to weight gain may be in genes

Statins are drugs that lower cholesterol in the blood. These drugs keep cholesterol from building up and clogging the arteries. This helps prevent heart disease and heart attacks. But for some people, these drugs don't work very well. Even when the drug lowers levels of the "bad" cholesterol (LDL), many patients may still have heart attacks. How much the drugs lower cholesterol may be the key. This project will use BioVU samples to look for genes involved in a patient's response to the statin drug simvastatin (Zocor). First, the researchers will figure out how a person's drug dose relates to their LDL levels. This will give them a measure of a patient's dose response. They will then search for genes linked to drug responses. They will look for these genes in larger groups of patients outside of BioVU. In this large group, they will also see how a patient's dose response relates to whether they later had a heart attack. The results may show what genes affect a patient's response to simvastatin. This may help predict which patients this drug may work for and those who may need another drug.

Mucus-making gene may have role in many diseases

Why do some people stay thin, no matter what or how much they eat? The answer may be in their genes. Studies have found genes that make people more likely to become overweight or obese. But genes may also keep people from gaining too much weight. Either being too heavy or too thin can cause serious health problems. Reseasrchers have found a gene that helps control how our bodies use energy (calories from food). Changes that reduce the activity of this gene cause extreme weight gain. Vanderbilt researchers want to find out if other changes (mutations) that increase its activity can cause a person to be underweight. Using BioVU samples, researchers are looking for mutations in this gene in people who are underweight. The results may provide clues about how to prevent obesity.

Finding causes of inherited nerve disease

Idiopathic pulmonary fibrosis (IPF) is when scars form in the lungs. This can make it hard to breathe. The disease can get worse quickly and lead to death within 5 years after it starts. The cause is still unknown. And, right now, there is no cure. Vanderbilt researchers have been studying IPF. They found a gene change linked to the disease. This gene is found in cells that make mucus, like those lining the airways. But cells in other parts of the body also have this gene. And other diseases, like many cancers and inflammatory conditions, involve mucus production. So, the researchers think that this gene change may be involved in other diseases. This project is looking for this gene change in BioVU samples from patients with many different diseases. This includes many types of cancer and diseases like Crohn's disease and inflammatory bowel disease. The results may show that changes in this gene are involved in many different diseases. This could lead to new treatments for many of these diseases, including IPF.

Genes and obesity in sleep apnea

Charcot-Marie-Tooth (CMT) diseases are common inherited nerve disorders. CMT affects nerves of the body, but generally does not affect the nerves in the brain and spinal cord. People with CMT may have muscle weakness and foot deformities. They may also lose their sense of touch and tendon reflexes. There are several types of CMT that caused by mutations in genes encoding myelin proteins. Recently, Vanderbilt scientists found a new myelin protein, called SVIP. In this project, the researchers will see if people with CMT have mutations in this newly discovered myelin protein. They also will see what types of CMT are linked with these mutations. This project could reveal a new genetic cause of CMT diseases.

Diabetes, Heart Disease, Obesity

Sleep apnea is when a person stops breathing while they are sleeping. These pauses in breathing can disturb sleep. Many people with sleep apnea also snore. These things can cause a person to be very sleepy during the day. People with sleep apnea often have high blood pressure, heart disease, and diabetes. Sleep apnea is most common in people who are overweight or obese. But we don't know if obesity is the main cause of sleep apnea. Scientists suspect genes may also be involved, even if a person is not obese. In this project, researchers will search for genes linked to sleep apnea. The results will help us understand what causes sleep apnea and how to better treat it.

Genes associated with heart rhythms and diabetes in African Americans

March 2011

Diabetes, Heart Disease

Genes for complex diseases like heart disease and diabetes can be hard to find. Scientists think that many genes are involved in these diseases. One common type of study, called a GWAS, can detect some of these genes. But these studies can't find all of the genes involved. And sometimes, the genes that are found in one racial/ethnic group are not found in another group. Recent studies show that genes on part of chromosome 3 affect different parts of a person's heart rhythm. But these links were only found in white people. Researchers could not find the same links in black people. This project will look closer at this gene region in BioVU samples from black patients. The researchers hope to learn more about the genetic differences between these groups. These differences may play an important role in disease. The researchers have also found a gene linked to type 2 diabetes in both groups. But they don't know if these groups have the same changes within that gene. This project will look closely for gene changes in black patients with type 2 diabetes.

Diseases and the role of telomeres, the protective ends of chromosomes

March 2011

Genes linked to high blood pressure in black patients

The DNA in our cells is packed into X-shaped structures called chromosomes. The bits of DNA at the end of each chromosome arm are called "telomeres." Like those plastic tubes that protect the ends of shoelaces, telomeres protect our chromosomes. But each time a cell divides, its telomeres get a little shorter. When the telomeres are gone, the cell dies. Our cells have enzymes that help maintain our telomeres. The main enzyme is called telomerase. Having too much of this enzyme may keep cells from dying. This can lead to cancer. Having too little telomerase is linked to premature aging and other conditions. In the first part of this project, researchers are attempting to measure telomere length in BioVU samples. In the second part of the study, they are looking for changes in the genes for these enzymes. They will then search for diseases linked to these gene changes. These findings may suggest ways to prevent or treat some diseases.

February 2011

Genetic factors in abnormal blood clotting and cardiovascular events

About 1 in 3 adults has high blood pressure. It is more common in blacks than in whites. The disease is also more severe and happens at a younger age in blacks. Lifestyle factors, like diet and obesity, may explain some of this difference. But genes may play an important role. Prior studies have found genes linked to high blood pressure. The largest study found several genes linked to blood pressure in Europeans. But it is not clear if these genes also affect blood pressure in other racial or ethnic groups. This project will use BioVU samples to find genes linked to high blood pressure in black patients. The findings may help us understand why high blood pressure affects blacks differently than whites.

February 2011

Gene variant’s role in cardiac events after stent procedure

When we are injured, blood clots help stop the bleeding. This helps wounds begin to heal. But sometimes, the blood can clot too much or too easily. Blood clots can get stuck in blood vessels and cause strokes, heart attacks, or other serious conditions. Prostaglandins are compounds made naturally by the body. They are involved in blood clotting. One type of prostaglandin promotes blood clots in mice. But in humans, it can have a wide range of effects. In some people, it increases blood clotting. In others, it has no effect on blood clotting. Researchers think these different responses may be due the genes for prostaglandin receptors. These are proteins in our cells that bind to these compounds. In this project, researchers are looking for differences in these genes that might explain why people react so differently. They will also see if these gene differences are linked to heart attacks and other cardiovascular events

January 2011

Genes linked to obesity in black patients

Blood clots that form in the blood vessels around the heart can cause a heart attack. They often happen in people who have stents. Stents prop open blocked arteries. Stents are inserted during a procedure called percutaneous coronary intervention (PCI). In this project, researchers are studying different versions of a gene involved in blood clotting. This gene codes for a protein on the surface of cells lining the blood vessels. It is also found on platelets, the tiny pieces of cells that make up part of the clot. A recent study found that men with one version of this gene had lower risk of blood clots. This gene version is also linked to heart disease. Using BioVU samples, the researchers are looking at this gene in patients with acute coronary events after receiving stents. These events include angina, heart attacks, or death. The results could show which patients are more likely to have blood clots and cardiac events after PCI. Doctors could then give these patients higher doses of drugs to prevent clotting. This could ultimately help patients with stents live longer and have fewer side effects from stents.

October 2010

Probing a genetic cause of Cushing’s syndrome

Obesity is when you weigh too much relative to your height. Body mass index (BMI) is a measure of body fat based on weight and height. A person with a BMI greater than 30 is considered "obese." A person with a BMI between 25 and 30 is overweight. More than 2 out of every 10 people worldwide are overweight or obese. In the United States, obesity is more common in minority groups. We are not sure why. Studies have found several genes linked to obesity. But most of these studies were done in white people. Few studies have looked for links between BMI and genes in minorities. Using BioVU, this project will look for genes linked to BMI in black patients. The results may tell us if different genes influence obesity in blacks and whites. This could help us to find better ways to prevent or treat obesity.

October 2010

Brain and Nerve Disease, Diabetes, Heart Disease

Cushing's syndrome happens when the body has too much of the hormone cortisol. The most obvious sign of Cushing's syndrome is rapid weight gain around the belly. The condition can lead to diabetes and high blood pressure. If not treated, Cushing's syndrome can be deadly. There are some medicines to treat the condition. But these do not work very well. They also may cause serious side effects. Better treatments are needed for this condition. In this project, researchers are looking for changes in a gene called MC3R in people with Cushing's. This study may reveal a new cause of Cushing's syndrome in humans. This may also help us find better ways to treat it.

Tools to protect patient privacy in era of data sharing

September 2010

Genes associated with cancer in minorities

To find new links between genes and disease, researchers often need to share patient information. Large databases of patient health information have been created to help with this. These databases combine data from many researchers and institutions. Information that identifies specific patients is removed. Researchers around the world can then use this information for their research. But some worry that the data may be traced back to the original patient. This is a major risk to patient privacy. Using BioVU, researchers are studying how to protect patient privacy in such large databases. They hope to find ways to protect patient information while giving researchers the information they need for their research.

August 2010

Genetic factors contributing to the spread of cancer throughout the body

Past studies have found many gene changes associated with cancer. But we don't yet know much about gene changes in minorities with cancer. This project will look for these gene changes in black patients and other minorities with cancer. They will study how common these gene changes are in these groups. The researchers are looking for links between these gene differences and features related to cancer. They will also search for factors that interact with the genes changes they find. These factors may include smoking and body weight. This study is part of a large national project to study genes linked to disease. The BioVU samples will add important data on minority populations to this large national study.

July 2010

Genetic factors in response to inhaled asthma medicines

Cancer usually kills by spreading from its original site to other parts of the body. This process is called metastasis. Past studies have found links between certain genes and cancer's spread. Slightly different versions, or variants, of some genes may make a person's cancer more likely to spread. In this project, researchers are using BioVU samples to look for gene variants that affect cancer's spread. If they find strong links between the certain variants and metastasis, cancer patients could be tested for these variants. Knowing whether a patient has these variants could help doctors treat cancer patients. They could offer more radiation therapy or do more frequent follow-ups. This could help keep these tumors from coming back and spreading.

July 2010

Drug and Gene Interactions, Lung Disease

Asthma is a long-term disease of the airways. Some people's airways are more sensitive to certain things in the air, like smoke and dust. These things can cause the airways to swell and narrow. This can cause coughing or wheezing and make it hard to breathe. Inhaled corticosteroids are medicines used to control asthma. These drugs are breathed directly into the lungs. This allows the drugs to work faster at lower doses. But for about 1 in 4 people with bad asthma, these drugs do not work well. Past studies have found genes linked to poor response to these drugs. But those studies only looked at small groups of white children with asthma. However, asthma is more common in black children and other minority children. In this project, researchers are using BioVU to look for these genes in a larger, more diverse population. This will include black and other minority patients with asthma. The results may help doctors determine which patients might need a different medicine to control their asthma.

Genetic factor of multiple sclerosis

May 2010

Genes to help predict breast cancer

Multiple sclerosis (MS) is a complex disease that affects the brain and spinal cord. MS is 2 to 3 times more common in women than in men. Each person with MS may have a different set of symptoms. In MS, the body's own immune system damages the covering around the nerves, called the myelin sheath. This damage slows down messages between the brain and body. The disease also causes scars, called "plaques" or lesions, in the brain and spinal cord. This damage can cause a wide variety of symptoms. The first gene linked to MS was found in the 1970s. A few more have been found since then. But scientists think there are likely many more genes involved in the disease. In this project, researchers are using BioVU samples to confirm the genes that have been previously linked to MS. They also hope to find more genes associated with the disease and its wide range of symptoms.

April 2010

Drugs, diabetes, and genes involved in kidney injury

We don't know why most women get breast cancer. Changes in many genes may combine to increase the risk of breast cancer. Studies have found many gene changes linked with breast cancer. Some of these genes are involved in how the body makes or uses estrogen, the "female" hormone. Others are members of "growth factor signaling" pathways. These pathways control the growth of cells in the body. In this study, researchers are focusing on genes of these important pathways. They will look at DNA samples from BioVU to see if women with breast cancer have gene changes in these pathways. The researchers hope to find gene changes that will predict which women are most likely to get breast cancer. This would help doctors to know which women may need mammograms more often. These gene changes may also tell us who would be most likely to benefit from early treatment.

April 2010

Genetic factors affecting organ transplant drug response

Some drugs can damage the kidneys. Within 2 days, this can cause your kidneys to stop working right. This is called acute kidney injury (AKI). Diabetic patients are specifically prone to kidney injury. There is no way to know which patients will get AKI after taking these drugs. This project's goal is to find genes that can predict which patients may be at risk. The researchers previously found a change in a water transporter gene in mice that may be involved. This change led to kidney damage in mice much like that seen in patients with drug-induced AKI. The researchers looked for the changes in this gene in BioVU DNA samples from patients with AKI. They found that many diabetic patients with the gene change were more likely to get long-term, chronic, kidney disease than diabetic patients with unaltered gene The researchers are now looking at a larger group of patients to confirm this link between the gene change and the risk to develop chronic kidney disease in diabetic patients Being able to identify diabetic patients at risk may improve their care. Doctors could monitor these patients more closely and, if necessary, change the drug the patient is on.

April 2010

Differences in drug transporter genes may affect diabetes drug response

Many patients take the drug tacrolimus after an organ transplant to keep their bodies from rejecting the new organ. But patients respond differently to the drug and need different doses. Too high a dose can cause kidney damage and puts the patient at higher risk of getting an infection. If the dose is too low, the patient's body may reject the new organ. Many different gene changes influence how a person's body processes a drug. Using the gene data from BioVU, researchers hope to find combinations of these gene changes that may affect how a patient responds to tacrolimus. This sort of information could help doctors figure out the right drug and dose for each patient.

March 2010

Diabetes, Drug and Gene Interactions

In type 2 diabetes, blood sugar levels are too high. Over time, high blood sugar can damage the kidneys, heart, eyes, nerves and other organs. Many people with diabetes take the drug metformin to help control blood sugar. But the drug works better for some people than others. Drug transporters move drugs back and forth between your blood and cells. Scientists think that slight inherited differences in drug transporter genes may affect how well metformin works. In this project, researchers are using BioVU samples to look for these gene differences in patients with type 2 diabetes. They want to see if these gene differences explain how well metformin helps control patients' blood sugar.

Epilepsy-associated gene variants

March 2010

Using electronic health records to find genes involved in drug response

Sodium channel proteins move sodium in and out of our cells. Some types of epilepsy have been linked to changes in genes for sodium channels. But changes in other genes may affect how severe a person's disease is. The researchers leading this project have found one of these other genes in mice with a condition similar to epilepsy. They also found two different versions, or "variants," of this gene in children with epilepsy. Using the DNA samples in BioVU, the researchers are searching for these variants in patients who do not have epilepsy. This will show whether this gene is truly involved in epilepsy in humans. The new information could also point to new treatments for the disease.

December 2009

Genetic factors in pain and pain treatment

In some patients, certain drugs can cause side effects. In other patients, certain drugs may not work as well as they are supposed to. Severe drug effects can even lead to death in some cases in hospital patients. Being able to predict which patients may process the drugs differently than others and which may patients may be at risk for side effects could improve patient care and prevent side effects. Studies have found dozens of genes that can affect how patients respond to drugs. Many more remain to be found. But the types of studies needed to find these genes can be hard to do and take a long time. Electronic health records contain information about drugs patients have taken and how they responded to these drugs, including side effects. If this information could be linked to information about a patient's genes, it could help researchers find genetic changes involved in drug reactions. In this project, researchers are testing whether gene changes in the DNA samples in BioVU can predict drug responses noted in the electronic records linked to those samples. They believe that uncovering gene information could speed up research on gene-drug interactions and could greatly improve patient care.

October 2009

Genetics of a brain bleed

Two people may experience pain very differently, even if they have the same disease or have had the same surgery. How they respond to pain medicines can also be very different. A drug that helps one person may not work for another person. What causes these differences is not known, but genes may play an important role. This project will look for links between certain gene changes and how bad a patient reports his/her pain to be after knee surgery. These results could help doctors find the right pain medication for each patient based on their gene profile.

Gene changes linked to how we process codeine

An aneurysm [An-you-riz-im] is a bulge in a blood vessel. It forms if we have a weak spot in a blood vessel wall. An aneurysm can happen in a blood vessel in our heart. Or behind our knee. In our intestine. Or in our brain. You may have symptoms. Or you may not. Most aneurysms do not cause problems. But, it could start to a leak. A leak causes bleeding in places where there should not be blood. Or it could burst. This is not good. If a blood vessel in our brain bursts, it is a type of stroke. It can be life-threatening. Within minutes, brain cells start to die. You want to seek treatment as fast as you can. Most of the time, we do not know what causes aneurysms. But there are things that can raise your risk. Like smoking. High blood pressure. Drug abuse. Or drinking a lot of alcohol. Older people are also at higher risk. A head injury can cause an aneurysm. Or a blood infection. Genetics may also play a part. Gene changes may affect your risk for an aneurysm. Each gene change may play a small part. Having one gene change may not affect your risk. But the gene changes can add up. The more you have, the bigger the risk. Scientists at Vanderbilt University Medical Center want to know more about brain aneurysms. And the risk of one leaking or bursting. They will look for people have a brain aneurysm. They will look to see who also had one leak. Then they will look for gene changes in both groups. If they find any changes, they will do more research. They want to make sure of their results. The goal is to find a way to predict who is at risk for a brain bleed. The earlier we know, the more we can do to stop it from leaking. Or bursting. Their results may also help us find a new way to treat aneurysms.

Genetics of blood vessel muscle spasms

Codeine is a common drug given for pain. But codeine itself does not help with pain. The body has to activate it first. A protein in your liver activates the drug. It turns codeine into morphine. Morphine is what helps ease the pain. But the protein that activates the drug does not work well in some people. For others, it might not work at all. About 1 in 8 people get little to no pain relief when they take codeine. A few people have extra copies of the gene that makes that protein. They get very fast relief from pain. But they also get side effects linked to high doses. Scientists know that changes in the gene that makes this protein cause these effects. But, no one has tested this in people. So, researchers at Vanderbilt will use BioVU to look for patients for whom codeine did not work well. Then they will check for gene changes. They hope to link the gene changes to less pain relief. Their results could help us predict for whom codeine will and will not work well. If we know someone has gene changes that affect how the drug will work, we can give them a different drug. That way, we can make sure people get the right amount of pain relief they need.

Relationship between observer reported ancestry and genetically determined ancestry

There are three layers of tissues between the scull and the brain. The space between the middle layer and the one directly on top of the brain is the subarachnoid space. Spinal fluid and blood vessels fill this space. Arteries are the blood vessels that deliver oxygen-rich blood to the brain. Sometimes, weak areas can form in artery walls. This causes them to get wider, or balloon in those areas. These weak areas are at risk for breaking, which can cause bleeding. High blood pressure, high cholesterol, and smoking can increase your chances of this happening. A stroke occurs when oxygen gets cut off to part of the brain. If an artery in the subarachnoid space bursts, it will bleed into that space. When this happens, oxygen does not reach that part of the brain. The technical term for this type of stroke is subarachnoid hemorrhage (SAH). Weak artery walls are the main cause of SAH. One out of three people that have an SAH die. Of the ones that survive, half are disabled from the SAH. After an SAH, blood builds up in the subarachnoid space. The blood gets trapped between the brain and the skull. This puts pressure on the brain. It also puts pressure on the other arteries in that space. This can cause the walls of the artery to tighten up or spasm. This is a vasospasm. When this happens, it creates narrow areas of the blood vessel. This reduces the blood flow to that area of the brain which can cause another stroke. Vasospasm can also occur in other arteries in the body. Lots of genes are in muscle cells of blood vessels. Changes in some of these genes may play a role in your risk for vasospasm. Scientists have already found one gene change linked to vasospasm after SAH. Other scientists found a link between gene changes and vasospasm in heart arteries. Scientists in this study are focusing on SAH that occurs due ballooning or widening of arteries in the subarachnoid space. This type of SAH is aSAH. They will use BioVU to look for people who have had aSAH. Then they will look to see if they have the gene changes already linked to vasospasm. Vanderbilt scientists will also check for links to changes in related genes. A link will help doctors figure out who might be at risk for vasospasm after SAH.