Maya Chopra - IDDRC

Maya Chopra, MBBS, FRACP

Director of Translational Genomic Medicine, RSZ-TNC, Boston Children's Hospital; Assistant Professor of Neurology, Harvard Medical School

Research Focus

Discovery and delineation of new and emerging rare genetic neurodevelopmental syndromes, evaluation of underlying mechanisms to inform therapeutic development.

Brief Research Description

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 IDDRC 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.

Key Publications (PMCIDs)

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Chopra M, Modi ME, Dies KA, Chamberlin NL, Buttermore ED, Brewster SJ, Prock L, Sahin M.
Mol Ther Methods Clin Dev. 2022 Dec 08; 27:32-46. PMID: 36156879; PMCID: PMC9478871.

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S.
Ann Clin Transl Neurol. 2022 02; 9(2):193-205. PMID: 35076175; PMCID: PMC8862420.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT.
Am J Hum Genet. 2021 06 03; 108(6):1138-1150. PMID: 33909992; PMCID: PMC8206162.

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Chopra M, Caswell R, Barcia G, Rondeau S, Jonard L, Nitchké P, Amram D, Bellaiche ML, Abadie V, Parodi M, Denoyelle F, Hattersley A, Bole C, Lyonnet S, Marlin S. Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Eur J Hum Genet. 2022 08; 30(8):960-966. PMID: 35590056; PMCID: PMC9349287.

Toward representative genomic research: the children's rare disease cohorts experience.
Frazier ZJ, Brown E, Rockowitz S, Lee T, Zhang B, Sveden A, Chamberlin NL, Dies KA, Poduri A, Sliz P, Chopra M.
Ther Adv Rare Dis. 2023 Aug 22;4:26330040231181406. doi: 10.1177/26330040231181406. eCollection 2023 Jan-Dec.PMID: 37621556

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