Genetics of rare diseases

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.