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

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. This hour long lecture is presented by Dr. Sidransky, 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.

See more information on this news item.