Dr. Wendy Chung is an ABMG board certified Clinical and Molecular Geneticist with 20 years of experience in human genetic research of monogenic and complex traits including diseases such as breast cancer, pancreatic cancer, congenital heart disease, pulmonary hypertension, inherited arrhythmias, cardiomyopathies, obesity, diabetes, congenital diaphragmatic hernias, and autism. She has extensive experience in mapping and cloning human genes, describing the clinical characteristics and natural history of novel genetic conditions, characterizing the spectrum of disease, and developing tailored care and treatments for rare genetic diseases.

Dr. Chung directs NIH funded research programs in human genetics of birth defects including congenital diaphragmatic hernia, congenital heart disease, esophageal atresia, autism, neurodevelopmental disorders, pulmonary hypertension, cardiomyopathy, obesity, diabetes, and breast cancer. Dr. Chung led the pilot newborn screening study of spinal muscular atrophy in NY that lead to the nationwide adoption of this test in newborns. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and served on the Institute of Medicine Committee on Genetic Testing. She pursued her B.A. in biochemistry and economics from Cornell University, M.D. from Cornell University Medical College, and Ph.D. in Genetics from The Rockefeller University.

Representative Publications:

Implementation of Population-Based Newborn Screening Reveals Low Incidence of Spinal Muscular Atrophy

Pilot Study of Population-Based Newborn Screening for Spinal Muscular Atrophy in New York State

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Observational Study of Spinal Muscular Atrophy Type I and Implications for Clinical Trials

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