Maya Chopra, MD

Director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Center (TNC), Boston Children’s Hospital (BCH)

 Dr. Maya Chopra is a Clinical Geneticist with expertise in rare genetic disorders presenting in children, currently serving as Director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Center (TNC), Boston Children’s Hospital (BCH). She graduated from Medical School at the University of New South Wales, Australia in 2000. She obtained her specialist qualifications in Australia as a Paediatrician through the Royal Australasian College of Physicians, and Clinical Genetics through the Human Genetics Society of Australasia in 2010. Following her specialist qualifications, she has held Clinical Genetics positions at the Royal Prince Alfred Hospital (Sydney), Shanghai First Maternity and Infant Hospital (Shanghai) and the Imagine Institute of Genetic Diseases (Paris). Through these international experiences, she has gained experience in the evaluation and diagnosis of patients with rare genetic disease in a range of healthcare systems, together with expertise in gene discovery, the delineation of new rare genetic syndromes, gene curation and clinical bioinformatics. In her current role with the TNC at BCH, Maya is Genomic Medicine Lead for the BGR and is the Chair of the new ClinGen BGR ID/Autism Gene Curation Expert Panel.