Unraveling the Origins of Congenital Heart Disease

URMC is known for its great care of infants and children with congenital heart disease, treating patients from Rochester, Buffalo, Syracuse, and beyond.  But clinicians and scientists from the Pediatric Cardiology program are also part of something that spans beyond upstate New York – a research network of eleven elite institutions from across the country dedicated to unraveling the origins of congenital heart defects.

As a member of the National Institutes of Health’s Pediatric Cardiac Genomics Consortium, URMC recruits patients (more than 300 to date) and families to help scientists investigate relationships between genetic factors, clinical features and outcomes in congenital heart disease. George A. Porter, M.D., Ph.D., a pediatric cardiologist at Golisano Children’s Hospital, leads the effort, with the help of study coordinator Eileen Taillie.

In a first-of-its-kind study published recently in the journal Nature, the Consortium identified a group of gene mutations that may be behind up to 10 percent of complex congenital heart defects, the most frequent birth defect and a leading cause of infant death. The study is particularly exciting because, up until this point, scientists have understood little about the cause of the disease.

Read more about the new study and URMC’s participation in the Pediatric Genomics Consortium here.