Ruth Ottman

Ruth Ottman

Ruth Ottman

Professor
Epidemiology (in Neurology and the Sergievsky Center)

Office/Address:

630 W. 168th Street, P&S Box 16New York NY 10032
Phone:
212-305-7892
Fax:
212-305-2526
Website address: Email: CV:

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.

Topics

Education

PhD, 1980, University of California at Berkeley

Columbia Affiliations

Deputy Director for Research, G.H. Sergievsky Center, College of Physicians and Surgeons
Research Scientist, Division of Epidemiology, New York State Psychiatric Instittue

Additional Affiliations

Member, Genetics Commission, International League Against Epilepsy
Member, Clinical Research Task Force, American Epilepsy Society

Areas of Expertise

Gene-Environment Interactions, Genetics, Genetics, Neurological Disease / Disorders, Global Health, Epilepsy, Neurological Disease / Disorders

Select Publications

Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam CT, Pedley TA, Hauser WA LGI1 Mutations in autosomal dominant partial epilepsy with auditory features Neurology 62 1120-1126 2004

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

Winawer MR, Rabinowitz D, Pedley TA, Hauser WA, Ottman R Genetic influences on myoclonic and absence seizures Neurology 61 1576-1581 2003

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

Winawer MR, Rabinowitz D, Barker-Cummings C, Scheuer ML, Pedley TA, Hauser WA, Ottman R Distinct genetic influences on generalized and localization-related epilepsy Epilepsia 44 1176-1182 2003

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 Mutations in LGI1 cause autosomal dominant partial epilepsy with auditory features Nature Genetics 30 335-341 2002

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

Winawer M, Martinelli Boneschi F, Barker-Cummings C, Lee JH, Liu J, Mekios C, Gilliam TC, Pedley TA, Hauser WA, Ottman R Linkage to chromosome 10q24 in 4 new families with autosomal dominant partial epilepsy with auditory features Epilepsia 43 55-66 2002

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

Schupf N, Ottman R Risk of epilepsy in offspring of affected women: association with maternal history of spontaneous abortion Neurology 57 1642-1649 2001

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

Winawer MR, Ottman R, Hauser WA, Pedley TA Autosomal dominant partial epilepsy with auditory features: defining the phenotype Neurology 54 1173-2176 2000

110. Ottman R, Barker-Cummings C, Leibson CL, Vasoli VM, Hauser WA, Buchhalter JR Validation of a brief screening instrument for the ascertainment of epilepsy Epilepsia 51 191-197 2010

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

Winawer M, Ottman R, Rabinowitz D Concordance of disease form in kindreds ascertained through affected individuals Statistics in Medicine 21 1887-1897 2002

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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