Researcher Who Identifed Genetic Cause and Possible Treatment for Marfan Syndrome Honored

A long-time clinician and researcher on Marfan syndrome who helped identify the syndrome's genetic cause and a potential treatment will be honored by the March of Dimes.

Harry (Hal) Dietz, MD, the Victor A. McKusick Professor of Institute of Genetic Medicine and Professor of Pediatrics, at Johns Hopkins University School of Medicine and Howard Hughes Medical Institute Investigator, will receive the March of Dimes/Colonel Harland Sanders Award for Lifetime Achievement in the field of genetic sciences. Dr. Joe Leigh Simpson, senior vice president for Research and Global Programs of the March of Dimes, will present the award to Dr. Dietz today during the annual Clinical Genetics Meeting of the American College of Medical Genetics at Charlotte Convention Center.

Marfan syndrome is an inherited connective tissue disorder that affects about 1 in 5,000 people. The syndrome is caused by a genetic defect which causes overgrowth of the body's long bones and affects the tissue that strengthens the body's structures, including the skeletal system, cardiovascular system, eyes, and skin.

Those who have the syndrome tend to be tall with arms and legs much longer than expected for their height. Also, in those with Marfan syndrome, the aorta, the main blood vessel that takes blood from the heart to the body, may stretch or become weak, leading to an aneurysm.

In 1991, Dr. Dietz was a member of the team that identified the gene for Marfan syndrome. In 2006, his team's research showed that an FDA-approved high blood pressure medication, losartan, prevented and reversed aortic enlargement in mice with Marfan syndrome.

Dr. Dietz received his medical degree from the State University of New York Upstate Medical Center in 1984. He joined Johns Hopkins University Hospital in 1984 as a pediatric resident, became a Fellow in Cardiology there 1988, went on to pursue his post doctorate work at John Hopkins as wells and continues his research there today.

He was named the Richard Starr Ross Research Scholar, he received the Richard D. Rowe Award for outstanding research in Pediatric Cardiology, the Young Investigator Award, Society for Pediatric Research, and the Antoine Marfan Award, from the National Marfan Foundation. Dr. Dietz also is a member of the Board of Governors, National Human Genome Research Institute, a member of the American Society for Pediatric Research and the American Society for Clinical Investigation.