About
Dr. Maya Chopra directs Translational Genomic Medicine at Boston Children's Hospital, focusing on rare neurodevelopmental disorder delineation and therapy development. She is a clinical geneticist specializing in neurogenetic syndrome discovery.
Her research establishes genotype-phenotype correlations for SETD5, ASH1L, and CDKL5 disorders, evaluates gene therapy suitability, and develops clinical trial frameworks. Work integrates genomic analysis with multidisciplinary phenotyping.
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