Dr. Grossfeld continued to lead the Division basic science research program. He made progress in his NIH-funded projects: He has identified two genes that appear to have important roles in cardiac development and disease. These genes are plausible disease-causing genes in patients with Jacobsen syndrome, and Hypoplastic Left Heart Syndrome. He has also developed a genetically-engineered mouse model that recapitulates the congenital heart defects that have occurred in three members of a family here in San Diego who have a mutation in the same gene. Conse­quently, this mouse model should provide important insights into the mechanisms underlying some of the most severe forms of congenital heart disease. Lastly, Dr. Grossfeld‘s team has identified a gene that causes severe mental retardation in a subset of patients with Jacobsen syndrome. Success in either endeavor would be a major accomplishment, and his work in both areas appears to be promising. RCHSD was also recently selected to be an affiliate site for the Pediatric Heart Network/NIH-funded study comparing the effects of Losartan vs. Atenolol on aortic root dilation in patients with Marfan syndrome. Dr. Grossfeld is the site principle investigator. Drs. Moore, El-Said, Frazer, and Grossfeld were the staff cardiologists responsible for most of the Division’s clinical research and publications.

Identification of genes that cause mental retardation and behavioral problems in the 11q terminal deletion disorder (Jacobsen syndrome).