Maya Chopra, MBBS, FRACP

Co-I, Genetic Medicine Director

Boston Children's Hospital (BCH)

Dr. Maya Chopra, MBBS, FRACP, is a Clinical Geneticist with expertise in the delineation of rare neurodevelopmental syndromes, clinical trial readiness programs for such conditions, and in the evaluation of the mechanistic underpinnings to inform therapeutic approaches. She obtained her medical qualifications from the University of New South Wales in in 2000, and her speciality qualifications the Royal Australasian College of Physicians and the Human Genetics Society of Australasia in 2010. Dr Chopra has experience in practicing Clinical Genetics in a range of healthcare systems and cultural settings, having held positions at Royal Prince Alfred Hospital (Sydney, Australia), Shanghai First Maternity and Infant Hospital (Shanghai, China) and The Imagine Institute for Genetic Disease (Paris, France). Currently she is appointed at Boston Children’s Hospital, serving as Director of Translational Genomic Medicine at the Translational Neuroscience Center; Medical Co-Director, Neurogenetics and Neurodevelopment; and Attending Physician, Division of Genetics & Genomics, and Assistant Professor of Neurology at Harvard Medical School. Dr. Chopra serves as one of the Chairs of the ClinGen Intellectual Disability /Autism Gene Curation Expert Panel. She is the Principal Investigator of an internationally-recruiting longitudinal natural history study of Chopra-Amiel-Gordon syndrome (CAGS) and Medical Director of the multidisciplinary CAGS Clinic and ReNU Syndrome Clinic.