Gaucher Disease: Opening a Window Into More Common Disorders
Genomics in Action,
Novel Approach Targets an Inherited Disorder
News Release, July 2007
Researchers Uncover Genetic Clues to a Common Form of Age-Related Dementia
News Release, July 2006
Ellen Sidransky, M.D.
Medical Genetics Branch
Molecular Neurogenetics Section
B.A. Brandeis University, 1977
M.D. Tulane University, 1981
35A CONVENT DR, MSC 3708
BETHESDA, MD 20892-3708
Research in the Molecular Neurogenetics Section focuses on the biology and genetics of both Gaucher disease, a rare, recessively inherited disorder with highly variable symptoms, and Parkinson's disease, a common complex disorder. This work has been instrumental in uncovering the spectrum of symptoms and specific mechanisms underlying the pathology of Gaucher disease. Through careful long- term clinical and laboratory studies into the basis and natural history of Gaucher disease, the group first appreciated a link between glucocerebrosidase, the enzyme deficient in Gaucher disease, and the development of parkinsonism. Mutations in the glucocerebrosidase gene are now considered the most common genetic risk factor for Parkinson and related Lewy body disorders.
The research in this section incorporates an integrated clinical and basic science approach, utilizing diverse modalities such as neuroimaging, animal models, induced pluripotent stem cells, genetic studies, cell biology and protein techniques. Probing the association between the single-gene disorder Gaucher disease and the multi-gene disorder Parkinson disease has led to important insights into the cause and treatment of both diseases. Ultimately, the research goal is the translation of basic research findings into new therapies and improved genetic counseling for patients.
Dr. Sidransky, chief of the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute at the National Institutes of Health in Bethesda, Maryland. Dr. Sidransky graduated magna cum laude from Brandeis University with a B.A. in biology, and received her M.D. from Tulane University. She then trained in pediatrics at Children's Memorial Hospital/Northwestern University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program.
Dr. Sidransky has been a tenured investigator at NIH and a section chief since 2000. Her research includes both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first identified glucocerebrosidase as a risk factor for parkinsonism. She has spearheaded two large international collaborative studies regarding the genetics of Parkinson's 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. Dr. Sidransky directs two NIH clinical protocols, one evaluating patients with lysososmal storage disorders and the second prospectively studying patients and relatives with parkinsonism who carry mutations in GBA.
Last Updated: January 7, 2015