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.

  • http://www.cotaforkeeganh.com/ M. Harrison

    So glad to hear this! Considering 1 in 10 children are born with some type of congenital heart disease, our son being one of them, it’s an area needing much research. Knowing more would have given us some comfort in choosing to expand our family. We’re so thankful for the transplant team at CHB and are hopeful for the results of their work!

  • http://www.cotaforkeeganh.com/ M. Harrison

    So glad to hear this! Considering 1 in 10 children are born with some type of congenital heart disease, our son being one of them, it's an area needing much research. Knowing more would have given us some comfort in choosing to expand our family. We're so thankful for the transplant team at CHB and are hopeful for the results of their work!

  • Andi

    After just having my first child seven months ago, I am so happy to have heard how much research and time they are putting into finding out more about CHD. I was born with a CHD almost 30 years ago, when they knew very little and my outcome was not great, but today their is so much they can do even before a baby is born. Of course I was a high risk patient throughout my pregnancy, and underwent a few extra tests to make sure m baby was growing normally! Thankfully he was born healthy. Still a patient of Children’s cardiology unit today, it always breaks my heart when I see children in the waiting room, I always forget I was once one of them, but as a new mom it brings it to a whole new level. I take tremendous pride in being a part of Children’s Hospital Boston and will continue to do what I can to help them learn more about CHD in hopes that it will help lessen the amount of children born with a CHD.