Pediatric Genomic Medicine
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Wendy Chung, M.D., Ph.D.
Chief, Department of Pediatrics; Physician-in-Chief Mary Ellen Avery Professor of Pediatrics, Harvard Medical School
Boston Children’s Hospital, Harvard Medical School
Dr. Chung is a physician-scientist at Boston Children’s Hospital and Harvard Medical School whose research focuses on the genetic basis of human disease and the implementation of genomic and precision medicine. She directs NIH-funded programs studying birth defects, including congenital diaphragmatic hernia, esophageal atresia, and congenital heart disease, and leads major studies of autism and rare neurogenetic conditions, including SPARK and Simons Searchlight. Her work also advances newborn screening for disorders such as spinal muscular atrophy and Duchenne muscular dystrophy. Through initiatives including GUARDIAN, Dr. Chung is helping expand genomic screening and improve early diagnosis for rare diseases in newborns.
This page was last updated on Wednesday, August 12, 2026