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

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

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Air date:	Wednesday, November 4, 2020, 3:00:00 PM Time displayed is Eastern Time, Washington DC Local
Views:	Total views: 420 (220 Live, 200 On-demand)
Category:	WALS - Wednesday Afternoon Lectures
Runtime:	01:01:36
Closed captioning:	Check box to display CC outside of the video Note: You can drag the captioning window around and resize it
Description:	WALS Astute Clinician Lecture The Astute Clinician Lecture, established in 1998 through a gift from the late Dr. Robert W. Miller and his wife, Haruko, recognizes U.S. scientists who have observed unusual clinical occurrences and, by investigating them, have opened an important new avenue of research. Dr. Sidransky is chief of the Medical Genetics Branch and head of its Molecular Neurogenetics Section in the NIH National Human Genome Research Institute. Her research includes clinical and basic research aspects of both Gaucher disease and Parkinson disease. 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. Dr. Sidransky 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.. For more information go to https://cc.nih.gov/researchers/lectures/astuteclin.html

NLM Title:	Gaucher disease : how a rare disease provides a window into common neurodegenerative disorders / Ellen Sidransky.
Author:	Sidransky, Ellen. National Institutes of Health (U.S.),
Publisher:
Abstract:	(CIT): Dr. Sidransky is chief of the Medical Genetics Branch and head of its Molecular Neurogenetics Section in the NIH National Human Genome Research Institute. Her research includes clinical and basic research aspects of both Gaucher disease and Parkinson disease. 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.Dr. Sidransky 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.
Subjects:	Gaucher Disease Neurodegenerative Diseases
Publication Types:	Lecture Webcast

NLM Classification:	QU 265.5.L5
NLM ID:	101774272
CIT Live ID:	38966
Permanent link:	https://videocast.nih.gov/watch=38966

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