BioVU Projects
Below are the current approved projects. Choose a category to browse existing projects within each disease area.
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 Familial Hypercholesterolemia
What is Familial Hypercholesterolemia?
Familial hypercholesterolemia (FH) affects the way the body processes cholesterol. As a result, people with FH have a higher risk of heart disease and a greater risk of early heart attack. The genetic changes that cause FH are inherited. The condition is present from birth, but symptoms may not appear until adulthood. People who inherit the condition from both parents usually develop symptoms in childhood.What are LDL and HDL cholesterol?
Cholesterol is a fatty substance that is used by our body to create cells, hormones, bile acids, Vitamin D and other substances. It travels through the blood on proteins called “lipoproteins.” Two types of lipoproteins carry cholesterol throughout the body. LDL (low-density lipoprotein) cholesterol makes up most of your body’s cholesterol. High levels of LDL cholesterol raise your risk for heart disease and stroke. HDL (high-density lipoprotein) cholesterol absorbs cholesterol in the blood and carries it back to the liver. The liver then flushes it from the body.How was the research completed?
In this study, researchers will examine a genetic score made up of 22 specific DNA markers. These markers link to levels of LDL cholesterol in people with FH. Researchers will use data from BioVU to test the score in Caucasians and African Americans. They will test if adding other genetic markers linked to HDL cholesterol levels could improve the ability to predict how bad a person may develop FH.What is the importance of this study?
This study will allow for new discoveries of genetics of FH. The results can help guide clinical practice and improve the outcomes of patient care.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
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 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
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 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
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.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
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.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 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
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 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
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
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 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 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
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 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
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)
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
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
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
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 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
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 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 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 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
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 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 Breast and Colorectal Cancer
What is Cancer?
Cancer is a disease that happens when cells in the body grow and divide without control. Normally, cells grow and divide to help the body in different ways. But sometimes, cells can become damaged and start to grow out of control. This can create a lump or growth called a tumor. Not all tumors are cancerous, but the ones that are, can spread to other parts of the body and damage healthy tissues and organs. Cancer can happen in different parts of the body, and there are many types of cancer. African Americans are more likely to get certain types of cancer than other people. Breast and colorectal cancers are two of the most common types. Sadly, African Americans are more likely to die from these cancers than other people.How was the Research done?
Researchers will study the genes of African-Americans who have had breast or colorectal cancer to find new genetic traits that may cause these cancers. Due to the increased death rates of these cancers in this population, researchers will then compare the results with information from people that mostly European and Asian ancestors. Researchers are wanting to identify any differences in the gene makeup of these populations, to explain the differences in the occurrences and death rates. Researchers will combine the GWAS data with other types of information about genes to study how genes affect the risk of getting breast cancer and colorectal cancer. Specifically, they will look at how genes predict things like the types of molecules in the body and chemical changes to DNA. This will help us understand more about how genes can impact cancer risk.Who will benefit?
Both types of cancer can be very dangerous and can cause serious health problems. Researchers are looking at the genes of people who have had breast or colorectal cancer, as well as the genes of people who have not had these types of cancer. They want to see if there are differences in the genes between these two groups. Understanding which genes are linked to these cancers can help doctors develop better ways to prevent and treat them. It can also help people with African ancestry make informed decisions about their health and take steps to reduce their risk of getting these types of cancers.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.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
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 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
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
- High fever
- Rapid heartbeat and breathing
- Redness or swelling at the site of infection
- Low-grade fever or no fever
- Slow heartbeat
- Slow or shallow breathing
- Pale or cool skin
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.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 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.
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
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
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
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 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 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.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)
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
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.
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.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
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.
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.