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Children's researchers investigate the genetics of congenital heart disease

stockphotopro_60686087GJQ_baby_and_doctoIt’s a sad fact that congenital heart disease, the most common group of birth defects, affects 35,000 to 40,000 U.S. infants born annually. Currently, most congenital heart defects have no known cause.

But researchers at Children’s Hospital Boston and Brigham and Women’s Hospital hope to change that. They were recently awarded a large, 6-year grant from the National Heart, Lung, and Blood Institute (NHLBI) to probe the genetic causes of congenital heart disease. The $4.19 million grant is part of the Pediatric Cardiac Genomics Consortium (PCGC), which seeks to identify genetic and epigenetic causes of human congenital heart disease and to ultimately find preventive strategies, targets for treatment, and better diagnostic and prognostic information for families.

Although a few genetic causes of congenital heart disease are already known, the researchers hope to zero in on novel, undiscovered genes. Because gene discovery research requires a high number of patient samples, a collaborative consortium such as the PCGC will aid research by allowing scientists to share patient samples, data and technology.

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