Peter J. Gruber, MD, Ph.D., Associate Professor

 

 

Research


Our research focuses upon a personalized approach to children with congenital heart disease. Our group spans a number of areas of study in cardiac development and physiology, presently investigating three areas. First, we are focusing on the molecular mechanisms that regulate cardiac morphogenesis. We are characterizing global mechanisms that regulate ventricular identity and maturation during mid-gestation using microgenomic approaches. We are investigating several gene loci (Gata5, Isl1, and a variety of histone deacetylases and acetyl transferases). Second, we have created human iPS cells from children with a diverse array of congenital heart disease phenotypes. Via directed differentiation, we hope to gain a deeper understanding of human cardiac development using in vitro human disease models. Third, we have fostered a collaborative, international consortium of centers of congenital heart disease. We employ whole genome-based sequencing approaches informed by insights from developmental biology, where we are identifying novel loci that contribute to the development of human congenital heart disease. A parallel initiative organized by our group exists within Primary Children's Medical Center where every patient is evaluated by a genetic counselor and invited to enroll in our collaborative studies.