News Release
 

June 2, 2010

CONTACT: Karen Kreeger
215-349-5658
karen.kreeger@uphs.upenn.edu

Penn Medicine - University of Pennsylvania School of Medicine and University of Pennsylvania Health System


This release is available online at
http://www.uphs.upenn.edu/news/News_Releases/2010/06/common-gene-congenital-heart-disease/

First Common Genetic Variant Found for Congenital Heart Disease

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 Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 17 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $392 million awarded in the 2013 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; Chester County Hospital; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2013, Penn Medicine provided $814 million to benefit our community.