Ellen Sidransky MD

Dr Sidransky, chief of the Molecular Neurogenetics Section, is a paediatrician 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 paediatrics 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 NIH clinical protocols evaluating patients with lysosomal storage disorders and prospectively studying patients and relatives with parkinsonism who carry mutations in GBA1.

Dr Sidransky is the author of over 200 peer-reviewed papers and is board certified in both paediatrics and medical genetics. She was elected to the association of American Physicians and the Society for Pediatric Research and is a recipient of an NIH Director’s Award and the NHGRI Mentorship AWARD. She also serves on the medical advisory board of the National Gaucher Foundation.