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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

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.

Summary

Gaucher disease is a rare disorder caused by a hereditary deficiency of the enzyme glucocerebrosidase and is characterized by easy bruising, fatigue, anemia, low platelet count, and enlargement of the liver and spleen. Dr. Sidransky played a lead role in establishing the association between glucocerebrosidase and parkinsonism. She also has spearheaded two large international collaborative studies regarding the genetics of Parkinson disease and dementia with Lewy bodies. Her current work also focuses on understanding the complexity encountered in "simple" Mendelian disorders, the association between Gaucher disease and parkinsonism, and the development of small-molecule chaperones as therapy for Gaucher disease and potentially parkinsonism.


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