Harvard Catalyst Profiles

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Jennie Roy, Ph.D.

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Biography
Louisiana State University Health Sciences Center, New Orleans, LAPh.D.05/2020Human Genetics
University of New Orleans, New Orleans, LAB.S.05/2015Biology

Overview

Research
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  1. (Ricardo Mouro Pinto) Jan 4, 2021
    Hereditary Disease Foundation
    Testing of novel drugs targeting CAG repeat expansions as potential therapeutics for Huntington's disease
    Role Description: There is compelling evidence that CAG repeat expansion plays an important role in Huntington’s disease age of onset and disease progression. As a result, there is an opportunity to develop therapeutics to slow or stop expansion of these repeats and modify disease. Dr. Roy proposes the testing of a novel drug that, in preliminary studies, has successfully slowed the CAG expansion process in a mouse model of HD, as well as in human cells in culture. This potential therapy has promising implications for the treatment and modification of HD and, potentially, other repeat expansion disorders.
    Role: Postdoctoral Fellow

Bibliographic
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  1. Roy JCL, Vitalo A, Andrew MA, Mota-Silva E, Kovalenko M, Burch Z, Nhu AM, Cohen PE, Grabczyk E, Wheeler VC, Mouro Pinto R. Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection. Nucleic Acids Res. 2021 04 19; 49(7):3907-3918. PMID: 33751106; PMCID: PMC8053082.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  2. Lacour JC, McBride L, St Hilaire H, Mundinger GS, Moses M, Koon J, Torres JI, Lacassie Y. Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses. Cleft Palate Craniofac J. 2019 05; 56(5):674-678. PMID: 30343593.
    Citations: 6     Fields:    Translation:Humans
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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.