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Peter J. Gruber, MD, PhD, discusses his breakthrough study on the genetic roots of heart disease.
Peter J. Gruber, MD: Hi, my name is Peter Gruber, and I'm a surgeon and a scientist at The Children's Hospital of Philadelphia. We recently completed a study in which we looked at common genetic variation in children with congenital heart disease, the most common birth abnormality in which the cause is unknown in the vast majority of the cases. We studied over 6,000 children with and without congenital heart disease and identified a series of common variants, the same differences between you and me that underlie risk for a number of different heart diseases. This is significant, because for the first time, it shows that a limited number of changes can give rise to a wide variety of diseases and helps to form the molecular basis for congenital heart disease. In the future we'd like to expand these studies to try to understand all the different ways congenital heart disease can arise and use it to create a more personalized approach for kids with heart disease.
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