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Ellen Sidransky, MD
Gaucher Disease and Parkinsonism: Insights from a Rare Disorder
Chief, Section on Molecular Neurogenetics MGB, National Human Genome Research Institute
2 Riverside Circle, Roanoke, VA 24016
One of the more surprising findings in the field of neurogenetics has been the discovery of a link between two seemingly unrelated disorders: Parkinson’s disease, a common neurodegenerative disorder, and Gaucher disease, a rare lysosomal storage disease. This lecture will describe how this association was made and how it became established that mutations in the Gaucher gene are a common risk factor for Parkinson’s disease. It will also demonstrate how studies of a rare disease can serve as a window into understanding a common complex disorder. This association is already providing new insights into the importance of the lysosome in Parkinson’s disease pathogenesis and will potentially lead to new therapeutic strategies.