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Ruth Ottman

Professor of Epidemiology (in Neurology and the Sergievsky Center)

and:
The Gertrude H. Sergievsky Center, College of Physicians and Surgeons
Deputy Director for Research, G.H. Sergievsky Center, College of Physicians and Surgeons
Biography:
Dr. Ruth Ottman?s primary area of expertise is genetic epidemiology. Her research addresses the role of inherited factors in susceptibility to neurologic disorders, focusing on epilepsy and other seizure disorders. She also concentrates on methodologic issues in genetic epidemiology, including research designs for evaluating gene-environment interaction, methods for collection of valid family history data, and approaches to assessing familial aggregation. Dr. Ottman?s research group was the first to recognize the familial epilepsy syndrome "autosomal dominant partial epilepsy with auditory features" and to identify LGI1 as a major susceptibility gene for the disorder. Her other studies on epilepsy have addressed a wide range of issues, including assessment of familial risks, the shared and distinct genetic influences on different types of epilepsy, consistency with different modes of inheritance, the "maternal effect" in epilepsy, fertility deficits, comorbidity with migraine, and the psychosocial impact of genetic information on individuals with epilepsy and their family members. She is currently a collaborator in the Epilepsy Phenome/Genome Project, a large-scale collaborative project whose goal is to collect highly detailed phenotypic information on individuals and families with epilepsy, and Epi4K, a Center without Walls for Collaborative Research in the Epilepsies, whose goal is to identify genetic variation influencing the risk for epilepsy using next generation sequencing in 4,000 affected individuals.   View Faculty CV here (PDF).
Education & Training:

PhD, University of California at Berkeley, 1980

Affiliation(s):

University Affiliations:

Additional Affiliations:

  • Member, Genetics Commission, International League Against Epilepsy
  • Member, Clinical Research Task Force, American Epilepsy Society
Selected Publications:
    Ho Y-Y, Ionita-Laza I, Ottman R "Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF" Neurology 78 563-568 2012

    Ionita-Laza I, Ottman R "Study designs for identification of rare variants in complex diseases: the utility of family-based designs" Genetics 189 1061-1068 2011

    Shostak S, Zarhin D, Ottman R "What?s at stake? Genetic information from the perspective of people with epilepsy and their family members" Social Sciences & Medicine 73 645-654 2011

    Madsen AM, Hodge SE, Ottman R "Causal models for investigating complex disease. I. A Primer" Hum Heredity 72 54-62 2011

    Madsen AM, Ottman R, Hodge SE "Causal models for investigating complex disease. II. What causal models can tell us about penetrance for additive, heterogeneity, and multiplicative two-locus models" Hum Heredity 72 63-72 2011

    Ottman R, Barker-Cummings C, Leibson CL, Vasoli VM, Hauser WA, Buchhalter JR "Accuracy of family history information on epilepsy and other seizure disorders" Neurology 76 390-396 2011

    Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE "Genetic testing in the epilepsies: report of the ILAE Genetics Commission" Epilepsia 51 655-670 2010

    Shostak S, Ottman R "Ethical, legal, and social dimensions of epilepsy genetics" Epilepsia 47 1595-1602 2006

    Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC "Mutations in LGI1 cause autosomal dominant partial epilepsy with auditory features" Nature Genetics 30 335-341 2002

    Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, Nagle KJ, Lee KS, Scheuer ML, Neystat M, Susser M, Wilhelmsen K "Localization of a gene for partial epilepsy to chromosome 10q" Nature Genetics 10 56-60 1995

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