The magic in the web of it: How a rare disorder is helping to untangle the mysteries of Parkinson’s disease

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 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.