“Continuing to work on these genetic strategies could one day mean a cure for SMA,” -Dr. Rashmi KotharyDr. Rashmi Kothary’s team played a key role in identifying a new gene-editing strategy that could someday be used to treat spinal muscular atrophy (SMA). SMA is a children’s genetic condition where the SMN1 gene cannot produce enough SMN protein, causing motor neuron degeneration and muscle weakness. While gene therapies that restore the SMN gene can dramatically improve symptoms, there is no cure.
In this study, the researchers developed a customized CRISPR base editor, or “genetic scissors,” that activates the SMN2 gene to restore SMN protein to normal levels. This way, they do not have to worry about correcting the various mutations that could be causing the problem in the SMN1 gene. Treating mouse models of SMA with this CRISPR-based approach showed that it holds great promise. The study published in Nature Biomedical Engineering was led by researchers from Massachusetts General Hospital. See press release for details.
“Continuing to work on these genetic strategies could one day mean a cure for SMA,” -Dr. Rashmi Kothary, senior scientist at The Ottawa Hospital, professor at the University of Ottawa.
Authors: Christiano R. R. Alves, Leillani L. Ha, Rebecca Yaworski, Emma R. Sutton, Cicera R. Lazzarotto, Kathleen A. Christie, Aoife Reilly, Ariane Beauvais, Roman M. Doll, Demitri de la Cruz, Casey A. Maguire, Kathryn J. Swoboda, Shengdar Q. Tsai, Rashmi Kothary & Benjamin P. Kleinstiver
OHRI/uOttawa Core resources: Animal Care, Cell Biology and Image Acquisition
Funding: This work was supported by a Charles A. King Trust Postdoctoral Research Fellowship, Bank of America, N.A., Co-Trustees; a James L. and Elisabeth C. Gamble Endowed Fund for Neuroscience Research/Mass General Neuroscience Transformative Scholar Award; an MGH Physician/Scientist Development Award; an MGH Executive Committee on Research Fund for Medical Discovery Fundamental Research Fellowship Award; a Frederick Banting and Charles Best Canadian Institutes of Health Research Doctoral Research Award; a St. Jude Children’s Research Hospital Collaborative Research Consortium on Novel Gene Therapies for Sickle Cell Disease; the Muscular Dystrophy Association; Muscular Dystrophy Canada; the Canadian Institutes of Health Research, MGH Innovation Discovery Grant; MGH Executive Committee on Research Howard M. Goodman Fellowship (B.P.K.); and National Institutes of Health.
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