Physician Investigator (Cl) Genetics Program, Mass General Research Institute

Assistant Professor of Pediatrics Harvard Medical School

Assistant Pediatrician Pediatrics-Genetics, Massachusetts General Hospital

PhD University of Pennsylvania 2007

M.D.; Ph.D. University of Pennsylvania School of Medicine 2009

calcium-binding proteins; congenital diaphragmatic hernia; fibroblast growth factor 8; intercellular signaling peptides and proteins; neural crest; receptors notch

Understanding the genetic basis of congenital diaphragmatic hernia (CDH).

I am serving as the lead clinical geneticist for one of the largest and longest-running studies on the genetics of CDH, a common birth defect with high morbidity and mortality. This work contributes significantly to our understanding of the genetics of CDH, identifying critical genes and pathways with sequence variations and copy number variations, and correlating with disease phenotype and severity. Our long-term goal is to harness our understanding of the genetic basis of CDH to improve diagnostic, prognostic, and therapeutic options for these patients.