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NINDSNIMHNICHDNIDCDNEINIDCRNIANIAAANIDANHGRI NCCIHNIDDKNIEHSCCB

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Senior Investigator

Ellen Sidransky, M.D.

Molecular Neurogenetics Section

Medical Genetics Branch
Building 35A Room 1E-623
Convent Drive MSC3745
Bethesda MD 20892
Office: 301-496-0373


sidranse@mail.nih.gov

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.



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.

Scientific Summary
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  • 1) Aflaki E, Moaven N, Borger DK, Lopez G, Westbroek W, Chae JJ, Marugan J, Patnaik S, Maniwang E, Gonzalez AN, Sidransky E. (2015)
  • Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.
  • Aging Cell, Oct 21.
  • 2) Siebert M, Sidransky E, Westbroek W. (2014)
  • Glucocerebrosidase is shaking up the synucleinopathies.
  • Brain, 137: 1304-22
  • 3) Aflaki E, Lopez G, Stubblefield B. K, Goldin E , Maniwang E, Marugan J, Tayebi N, Sidransky E. (2014)
  • Macrophage models of Gaucher disease for evaluating candidate drugs and disease pathogenesis.
  • Science Translational Medicine, 6, 240ra73.
  • 4) Siebert M, Westbroek W, Chen Y-C, Moaven N, Li Y, Velayati A, Saraiva-Pereira ML, Martin SE, Sidransky E. (2014)
  • Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
  • RNA Biology, 11: 12901-13000.
  • 5) Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, et. al. (2013)
  • A multicenter study of glucocerebrosidase mutations in Dementia with Lewy Bodies.
  • JAMA Neurology, 70: 727-35
  • 6) Goker-Alpan O, Masdue JC, Kohn PD, Inanni A, Lopez G, Groden C, et. al. (2012)
  • The neurobiology of glucocerebrosidase-associated parkinsonism: A PET study of dopamine synthesis and rCBF.
  • Brain, 135: 2440-8
  • 7) Goldin E, Zheng W, Motabar O, Southall N, Choi JH, Marugan J, Austin CP, Sidransky E. (2012)
  • High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase.
  • PLoS One, 7:e29861.
  • 8) Sidransky E and Lopez G. (2012)
  • The enigmatic link between GBA and parkinsonism.
  • Lancet Neuro, 11: 986-98,
  • 9) Yap TL, Gruschus JM, Velayati A, Westbroek W, Goldin E, Moaven N, Sidransky E, Lee JC. (2011)
  • Alpha-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases.
  • J Biol Chem., 286: 28080-8.
  • 10) Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D. (2011)
  • Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies.
  • Cell, 146: 37-52.
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