Joseph T.C. Shieh, MD, PhD

Associate Professor of Pediatrics

Birth defects affect 1 in 33 babies, and many of these children need specialized treatment. Dr. Shieh sees these patients in Genetics and also sees families with Undiagnosed Conditions. His lab aims to understand, predict and prevent disease by integrating high-throughput genomic data analyses with epigenetics. Current projects include studies of copy number variation and disease, the regulatory role of non-coding RNA in human disease and model systems, predisposing factors for the development of congenital heart defects, and epigenetic determinants of congenital anomalies in twins.