Genetics of rare or undiagnosed conditions

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.