Although congenital heart disease represents the most common major birth defect, scientists have not previously identified common genetic variants that give rise to it.

Now genetics and cardiac researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease. "This gene, ISL1, plays a key role in regulating early cardiac development, so there is a compelling biological reason for investigating it as a genetic risk factor for CHD," said study leader Peter J. Gruber, M.D., Ph.D., assistant professor of surgery at the University of Pennsylvania School of Medicine, and a cardiothoracic surgeon and developmental biologist at The Children’s Hospital of Philadelphia. Gruber collaborated with his brother, Stephen B. Gruber, M.D., Ph.D., a geneticist and epidemiologist at the University of Michigan Medical School. The study appeared online in the journal Public Library of Science One.

For more information, refer to the CHOP press release:

http://www.chop.edu/news/first-common-gene-for-congenital-heart-disease-found.html

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Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the University of Pennsylvania School of Medicine (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $3.6 billion enterprise. 

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