The genetics of rare diseases

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.