Harvard Catalyst Profiles

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Maya Chopra, M.B.,B.S.

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Available: 01/01/00, Expires: 07/31/24

Chopra-Amiel-Gordon syndrome is a recently described neurodevelopmental disorder characterized by intellectual disability, speech delay and dysmorphic features. We are currently enrolling patients in an international natural history study to better delineate the genotypic and phenotypic spectrum and to establish the foundations for clinical trial readiness for this disorder. The student will work with the P.I in evaluating the rich detailed genotype and phenotype data obtained from this cohort. Depending on interest and availability, the student may also accompany Dr. Chopra to study visits and engage with families. This experience will provide a unique opportunity to better understand the challenges and opportunities for developing better care and treatments for rare genetic disorders affecting childhood learning and development.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.