Ellen Sidransky

Dr. Ellen Sidransky serves as Tenured Investigator and Chief of the Molecular Neurogenetics Section within the Medical Genetics Branch at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. As a pediatrician-clinical geneticist, she leads translational research bridging clinical practice and molecular science.

Education:

• B.A. in Biology, Brandeis University (1977, magna cum laude)
• M.D., Tulane University School of Medicine (1981)
• Pediatrics training, Lurie Children's Hospital
• Clinical Genetics fellowship, NIH Genetics Training Program

Her research program centers on the intersection of Gaucher disease (GD) and Parkinson's disease, where her team first identified glucocerebrosidase (GBA) as a critical risk factor for parkinsonism. Current work investigates the continuum of GD manifestations beyond traditional type classifications, develops small molecule chaperone therapies, and analyzes genetic modifiers through international collaborations on Parkinson's and Lewy body dementia. The Sidransky group maintains comprehensive GD clinical databases to study genotype-phenotype correlations and natural history.

Scientific Awards:

• Jay Van Andel Award for Outstanding Achievement in Parkinson's Disease Research (2019)
• Breakthrough Prize in Life Sciences (2024)

Dr. Sidransky directs two active NIH clinical protocols: one evaluating lysosomal storage disorder patients and another prospectively tracking GBA mutation carriers with parkinsonism. Her NIH intramural funding supports the Molecular Neurogenetics Section's integrated approach to translational research.

The research group operates a specialized biorepository for Gaucher disease, enabling investigations into unexpected phenotypic manifestations and the complex relationship between metabolic defects and neurological outcomes through combined clinical-basic science methodologies.