First Common Gene ID’d for Congenital Heart Disease

First Common Gene ID’d for Congenital Heart Disease

Reported May 28, 2010

(Ivanhoe Newswire) — In a move that may tame the so-called “Wild West” of genetics, researchers have discovered a genetic variant that boosts the risk of congenital heart disease (CHD).

The variant lies on chromosome 5, with the gene identified as ISL1, according to study author Peter J. Gruber, M.D., Ph.D. from The Children’s Hospital of Philadelphia.

“This gene (ISL1), plays a key role in regulating early cardiac development,” Dr. Gruber was quoted as saying, “so there is a compelling reason for investigating it as a genetic risk factor for CHD.”



CHD affects at least one in 100 live births, and ranges in severity from tiny holes between heart chambers that close naturally, to abnormal pulmonary structures that require a series of complicated surgeries.

While the study finding do not directly affect children with CHD, Dr. Gruber hopes a better knowledge of the molecular basis of heart disease may help surgeons understand how those children will respond to surgery.

Source: Plos One; May 26th, 2010