The Division participates as a sub-site for the Yale University Center of the National Heart, Lung, and Blood Institute-sponsored Pediatric Cardiac Genomics Consortium (PCGC), which is part of the Bench to Bassinet Program, which also includes the Cardiovascular Development Consortium and the Pediatric Heart Network. This international consortium has enrolled thousands of patients and their families in the "Congenital Heart Disease Genetic Network Study (CHD Genes)," a multicenter, prospective observational study designed to investigate relationships between genetic factors and phenotypic and clinical outcomes of patients with congenital heart disease. Now, in its 7th year, the CHD Genes study is beginning to study the role of mutations found in CHD patients in neurodevelopmental development of patients with CHD. Dr. George Porter is the site principal investigator for this study.
Dr. George Porter is recognized for his contributions to the landmark study called CHD Genes in a news release. Data from the study has identified new genes and pathways that are involved in heart and brain development and has appeared in the journals Nature and Science, among others.
Dr. George Porter’s laboratory studies mechanisms that control heart development from the embryo to that neonate. Active areas include understanding the role of bioenergetics and mitochondrial biology in the early heart. His group has recently determined that mitochondria can control myocyte differentiation in the embryo, and they are now determining if the same controls exist in the neonatal heart, where these findings can be used clinically. In addition, they are studying the basic mechanisms that control changes in energy production in the developing heart—how mitochondria become active and what controls this process. This work is relevant to the generation of congenital heart defects, the development of cardiomyopathies, and cardiac regeneration.
Funded by: Aab Cardiovascular Research Institute, American Heart Association, National Institutes of Health/National Heart, Lung, and Blood Institute, Strong Children’s Research Center, United Mitochondrial Disease Foundation