People
RSZ TNC Faculty
Maya Chopra, MBBS, FRACP
Assistant Professor of Neurology, Harvard Medical School; Director, Translational Genomic Medicine Core, Rosamund Stone Zander Translational Neuroscience Center
Dr. Chopra is a physician-scientist focused on the discovery and delineation of rare monogenic syndromes, particularly those affecting learning and development. She is Principal Investigator for the Chopra-Amiel-Gordon Syndrome Natural History Study, which is recruiting internationally, as well as the Congenital Heart Disease – Autism Spectrum Disorder Sequencing Initiative. She is Co-Investigator of the National Brain Gene Registry and serves as Chair of the ClinGen Intellectual Disability / Autism Gene Curation Expert Panel for this project. Dr. Chopra leverages her expertise in understanding the underpinning genetic mechanisms and clinical trajectories of rare neurodevelopmental disorders to evaluate suitability for therapeutic intervention in partnership with the RSZ TNC, scientific collaborators, and the patient and family community.
Dr. Chopra graduated from medical school in 2000 from the University of NSW and subsequently obtained her Australian Board qualifications in Pediatrics and Clinical Genetics. She has extensive experience in the assessment and diagnosis of children with rare genetic disorders. Dr. Chopra has held previous positions in Sydney (Royal Prince Alfred Hospital), Shanghai (Shanghai First Maternity and Infant Hospital) and Paris (Imagine Institute of Genetic Diseases), where she developed expertise in the applications of gene sequencing technologies for rare presentations including intellectual disability and craniofacial differences.