03:38pm Saturday 21 October 2017

First Common Genetic Variant Found for Congenital Heart Disease

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. 

Penn’s School of Medicine is currently ranked #2 in U.S. News & World Report’s survey of research-oriented medical schools, and is consistently among the nation’s top recipients of funding from the National Institutes of Health, with $367.2 million awarded in the 2008 fiscal year. 

Penn Medicine’s patient care facilities include:

Additional patient care facilities and services include Penn Medicine at Rittenhouse, a Philadelphia campus offering inpatient rehabilitation and outpatient care in many specialties; as well as a primary care provider network; a faculty practice plan; home care and hospice services; and several multispecialty outpatient facilities across the Philadelphia region.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2009, Penn Medicine provided $733.5 million to benefit our community.


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