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.
Summary
Rare diseases are individually rare but collectively common and teach us about the underlying mechanisms of common diseases. Given how many rare diseases there are and how rare each is individually, how do we build sustainable infrastructure and synergies that will support the ecosystem of stakeholders trying to diagnose, prevent, and treat these conditions in an ethical and cost effective manner.
Learning Objectives:
- Appreciate the opportunities and current limitations of newborn screening to support population health.
- Appreciate the dimensions of synergy across rare diseases that can be applied holistically across rare diseases.
This page was last updated on Wednesday, August 26, 2026