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Ellen Sidransky, M.D., Senior Investigator
Dr. Sidransky received her B.A. in Biology from Brandeis University in 1977 and her M.D. from Tulane University in 1981. She then trained in pediatrics at Children's Memorial Hospital/Northwestern University, worked for several years in general pediatrics in Israel, and received her fellowship training in clinical genetics at the NIH Inter-institute Genetics Training Program. Dr. Sidransky joined the Clinical Neuroscience Branch at NIMH in 1988 and began studying Gaucher disease in the laboratory of Dr. Edward Ginns. She has been a Senior Investigator in that Branch since 1990. Dr. Sidransky's research includes both clinical and basic research aspects of Gaucher disease, studies of genotype/phenotype correlation, clinical insights from mouse models, and childhood-onset psychiatric disorders. Her current research also focuses on understanding the complexity encountered : in "simple" Mendelian disorders and elucidates the relationship between Gaucher disease and parkinsonism
 Photo of Ellen Sidransky, M.D., Senior Investigator
Staff:


Research Interests:
Our section integrates basic and clinical research in a "bench to bedside" approach to the challenges of human disease. Most disorders affecting the nervous system are characterized by a wide range of patient presentations, yet the factors contributing to this heterogeneity are often elusive. Gaucher disease, the most common of the sphingolipidoses, is studied as a prototype disorder because there is a broad spectrum of clinical diversity resulting from this recessively inherited enzyme deficiency. Clinical, molecular, and biochemical studies in humans and animals are used to understand heterogeneity in Gaucher disease and to develop rational therapy for patients. We have shown that there is significant genotypic heterogeneity among clinically similar patients, and that the vastly different phenotypes encountered among patients with Gaucher disease are not adequately predicted by genotype. Transgenic and knock-out mice developed to better understand of the pathogenesis and treatment of lysosomal storage disorders led to the recognition of a new lethal human Gaucher phenotype, the involvement of the substrate glycosylsphingosine, the role of glucocerebrosidase in skin morphology and function, and the identification of a novel contiguous gene, metaxin. We also focus on patients with Gaucher disease and atypical manifestations including parkinsonism, myoclonic epilepsy, cardiac involvement and collodion skin. Understanding the mechanisms leading to these diverse phenotypes will provide insights relevant to other disorders. A second interest in our section is the relationship between mutant glucocerebrosidase and parkinsonism. We study patients with both Gaucher disease and parkinsonism, glucocerebrosidase mutations in patients with parkinsonian manifestations, the relationship between mutant glucocerebrosidase and �у{synuclein and aid to develop therapeutic strategies. Elucidating the link between Gaucher disease and parkinsonism will provide insights into the pathogenesis and genetics of both disorders, demonstrating how the study of rare, single gene disorders can provide a valuable tool to explore the etiology of more common, multifactorial genetic diseases.

Clinical Protocols:
  • Studies of Heterogeneity in Patients with Lysosomal Storage Disorders ( 86-M-0096 )
Selected Recent Publications:

  • Sidransky E. Gaucher (2005) Disease and Parkinsonism, Mol Genet Metab 84, 302-4.

  • Goker-Alpan O, Hruska KS, Orvisky E, Kishnmani PS, Stubblefield BK, Schiffmann R, Sidransky E (2005) Divergent phenotypes in Gaucher disease implicate the role of modifiers. , J Med Genet 42.

  • Goker-Alpan O, Sidransky E. (2005) Risky business: Gaucher disease and multiple myeloma. , Blood 105, 4546-7.

  • Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. (2004) Glucocerebrosidase mutations in subjects with parkinsonism, Mol Genet Metab 81, 70-3.

  • Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerny-Leo A, Sidransky E. (2004) Parkinsonism among Gaucher disease carriers, J Med Genet 41, 937-940.

  • Sidransky E. (2004) Gaucher disease: complexity in a 'simple' disorder, Mol Genet Metab 83, 6-15.

  • Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A, Colegial C, Schiffmann R. (2004) Neuropathology provides clues to the pathophysiology of Gaucher disease., Mol Genet Metab 82, 192-207.

All Selected Publications

Contact Information:

Dr. Ellen Sidransky
Molecular Neurogenetics Section, NIMH
Porter Neuroscience Research Center
Building 35, Room 1A-213
35 Convent Dr, MSC 3708
Bethesda, MD 20892-3708

Telephone: (301) 451-0901 (office), (301) 402-6438 (fax)
Email: sidranse@irp.nimh.nih.gov
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Send email to neuroscience@nih.gov 		Last updated Friday, July 22, 2005