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Gaucher Disease: How a Rare Disease Provides a Window into Common Neurodegenerative Disorders

Wednesday, November 4, 2020 - 3:00pm to 4:00pm

Speaker

Ellen Sidransky, M.D.
Branch Chief, Medical Genetic Branch
National Human Genome Research Institute

Summary

Dr. Ellen Sidransky is the Branch Chief of the Medical Genetics Branch and is a pediatrician and geneticist in the National Human Genome Research Institute at National Institutes of Health (NIH). Her research interests include both clinical and basic aspects of Gaucher disease and Parkinson disease, studies of genotype/phenotype correlation and genetic modifiers, insights from mouse models, and novel treatment strategies. She played a lead role in establishing the association between glucocerebrosidase and parkinsonism. The author of over 200 publications, she continues to focus on the complexity encountered in "simple" Mendelian disorders, the role of lysosomal pathways in parkinsonism, and the development of small molecule chaperone therapies for Gaucher disease and for parkinsonism.


The page was last updated on Friday, September 18, 2020 - 10:12am