5/30/2010 PERMALINK
Gene variant found to cause congenital heart disease. The Children's Hospital of Philadelphia, University of Michigan Medical School : Although congenital heart disease (CHD) represents the most common major birth defect, scientists have not previously identified the common variation in the genes that give rise to it. Now genetics and cardiology 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., a pediatric cardiothoracic surgeon and developmental biologist who collaborated with his brother, Stephen B. Gruber, M.D., Ph.D., a geneticist and epidemiologist.