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

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.