Ruth Ottman, PhD

Academic Appointments

  • Professor of Epidemiology (in Neurology and the Gertrude H. Sergievsky Center)
Ruth Ottman, PhD

Dr. Ottman received her PhD in genetics from the University of California at Berkeley, and joined the Columbia University faculty in 1981, where she is Professor of Epidemiology (in Neurology and the Sergievsky Center) and Deputy Director for Research at the Sergievsky Center. She is also a Research Scientist in the Division of Translational Epidemiology, New York State Psychiatric Institute.

Dr. Ottman is a genetic epidemiologist whose research aims to unravel the complex genetic and nongenetic influences on neurologic disorders.  Much of her work has focused on the epilepsies.  Her 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. She is a primary investigator in large epilepsy genetics research consortia, including the Epilepsy Phenome/Genome Project, which collected dense phenotypic information and DNA for gene discovery on ~3500 individuals with epilepsy, and Epi4K, which is using genomic sequencing to identify genes that influence epilepsy susceptibility. She is also deputy director of the Columbia Center for Research on Ethical, Legal, and Social Implications of Psychiatric, Neurologic, and Behavioral Genetics, and is actively engaged in research on the psychosocial impacts of genetic research and practice among persons affected by or at risk for neurologic disorders.

Dr. Ottman's research addresses the role of inherited factors in susceptibility to common disorders, primarily focusing on neurologic disorders, and on the psychosocial impacts of genetic research and practice among persons affected by or at risk for these disorders. She is also interested in methodologic issues in genetic epidemiology, including research designs for testing gene-environment interaction, methods for collection of valid family history data, and approaches to assessing familial aggregation.

Departments and Divisions

  • Department of Neurology
    Division of Epilepsy and Sleep Disorders

Languages Spoken

  • Spanish

Centers / Institutes / Programs

  • Taub Institute for Research on Alzheimer's Disease and the Aging Brain
  • Gertrude H. Sergievsky Center

Past Positions

1981-88          Assistant Professor of Public Health (Epidemiology) (in the Sergievsky Center), Columbia University
1988-91          Assistant Professor of Clinical Public Health (Epidemiology) (in the Sergievsky Center), Columbia University
1989-present  Research Scientist, New York State Psychiatric Institute
1991-1996      Associate Professor of Clinical Public Health (Epidemiology) (in the Sergievsky Center) (tenure-of-title), Columbia University
1996-2000      Associate Professor of Public Health (Epidemiology) (in the Sergievsky Center) (tenure), Columbia University
1998-present  Deputy Director for Research, G. H. Sergievsky Center, Columbia University
2000-2006      Professor of Epidemiology (in the Sergievsky Center), Columbia University
2006-present  Professor of Epidemiology (in Neurology and the Sergievsky Center), Columbia University
2002-present  Research Collaborator, Mayo Clinic Rochester

Presentations

INVITED PRESENTATIONS AT NATIONAL OR INTERNATIONAL MEETINGS (last 10 years)

  • Epilepsia:  desde la población hasta la mutación.  Conferencia Internacional de Epilepsia, Seville, SPAIN, May 7, 2004.
  • Introduction to Genetic Epidemiology.  Cold Spring Harbor Laboratory course, Genetics of Complex Human Diseases, Banbury Conference Center, Lloyd Harbor, NY, June 9 – 15, 2004,
  • Las Epilepsias Idiopáticas: Descubrimiento de Genes y Mecanismos.  III Congreso Latinoamericano de Epilepsia.  Mexico City, MEXICO, July 4, 2004.
  • Allelic Association Studies in the Epilepsies.  Advanced Epilepsy Management Symposium, Cleveland Clinic, Cleveland, Ohio.  July 15-19, 2004.
  • Genetic Epidemiology.  Second International Course of Neuroepidemiology, Ettore Majorana Centre for Scientific Culture, Erice, Sicily, ITALY, November 4-10, 2004.
  • Analysis of Complex Genetic Diseases.  Annual course, American Epilepsy Society, New Orleans, Louisiana, December 5, 2004.
  • Epilepsia:  Desde la Población Hasta una Mutación.  Hospital Pediátrico “Juan Manuel Márquez”, La Habana, CUBA, January 4, 2005.
  • Genetic epidemiology: insights into inheritance of epilepsy.  International Epilepsy Congress, Paris, FRANCE, August 30, 2005.
  • Genetic epidemiology of the epilepsies.  Epilepsy Genetics and Pharmacogenetics.  The Banbury Center, Cold Spring Harbor Laboratory, October 23-26, 2005.
  • Should epidemiology guide genetics or vice-versa?  Epilepsy Research Foundation Workshop on the Genetics of Epilepsy, St. Catherine’s College, Oxford, UK.  March 22-24, 2006.
  • History and development of the syndrome.  International workshop on autosomal dominant lateral temporal epilepsy:  new concepts and delineation of the syndrome.  Bologna, ITALY, October 6, 2006.
  • Genetic Epidemiology.  Third International Course of Neuroepidemiology.  Ettore Majorana Centre for Scientific Culture, Erice, Sicily, ITALY.  November 10-16, 2006.
  • Gene-Environment Interaction: Definitions and Study Designs.  Capturing Complexity:  The Scientific, Societal, and Ethical Meanings of “Environment” in Genetic Research.  Stanford Center for Biomedical Ethics, May 9, 2008.
  • Linkage and Association Studies.  IVth Latin American Course on Human and Medical Genetics. Caxias do Sul, BRAZIL.  June 1-6, 2008.
  • Epilepsia desde la población hasta una mutación. Genética de la Epilepsia: Estado Actual y Perspectivas.  Buenos Aires, ARGENTINA.  June 7, 2008.
  • Genetic Epidemiology.  Fourth International Course of Neuroepidemiology.  Ettore Majorana Centre for Scientific Culture, Erice, Sicily, ITALY.  November 2008.
  • Introduction to Genetic Testing: Types of Tests and the Need for Guidance.  Session on Genetic Testing in the Epilepsies, 28th International Epilepsy Congress, Budapest, HUNGARY, July 1, 2009.
  • Genetic Epidemiology of the Epilepsies.  XXXIII Annual Meeting of the Mexican Academy of Neurology, Cancun, MEXICO.  November 20, 2009.
  • Genetic Epidemiology of the Epilepsies.  National Epifellows Forum, Boston, Massachusetts.  December 4, 2009.
  • Epidemiologic approaches to phenotype definition in genetic studies of the epilepsies.  Genetics of Epilepsy Workshop, Tel-Aviv University.  Sde Boker, ISRAEL.  May 6-7, 2010.
  • Criteria for selection of families for next generation sequencing.  Genetics of Human Epilepsy Workshop.  San Diego, California. August 30-September 1, 2010.
  • Phenotype definition in genetic studies of the epilepsies.  Annual meeting of the EPIGEN Consortium, Istanbul, TURKEY, September 10, 2010.
  • Investigator’s Workshop: Neurobiological mechanisms in genetic focal epilepsies: the case of LGI1.  Speaker and chair.  Annual meetings of the American Epilepsy Society, San Antonio, Texas.  December 5, 2010.
  • Gene-environment interaction:  definitions and study designs.  Annual Meetings of the Society for Behavioral Medicine, Seminar 08: Gene-Environment Interplay in Health Behavior: From Mechanisms to Translation.  Washington DC, April 27, 2011.
  • Genetic epidemiology of the epilepsies.  Coming Together on Epilepsy Genetics: From Humans to Model Organisms and Back.  Jackson Laboratories, October 9-11, 2011.
  • Genetic Epidemiology.  Fifth International Course of Neuroepidemiology.  Ettore Majorana Centre for Scientific Culture, Erice, Sicily, ITALY.  November 26-December 2, 2011.
  • Genetics of the epilepsies: an update.  3rd North American Regional Caribbean Congress on Epilepsy, ANTIGUA. February 16-18, 2012.
  • Genetic Screening.  Columbia University Epidemiology Scientific Symposium entitled “Modern Controversies in Screening.”  May 11, 2012.
  • Genetic Testing as a Biomarker for the Management of Epilepsy.  2012 Calgary Epilepsy Symposium, Calgary, CANADA.  October 18, 2012.
  • Genetics of the Epilepsies: Insights from Epidemiology.  École des Hautes Études en Santé Publique (EHESP School of Public Health), Paris, FRANCE.  November 8, 2012.
  • Breakthroughs in the Genetics of the Epilepsies.  Columbia University Epidemiology Scientific Symposium entitled “Breakthroughs in Autism and Related Disorders.” April 26, 2013.
  • Genetic Testing Preferences and Motivations.  Genetics Special Interest Group, Annual Meetings of the American Epilepsy Society, Washington DC, December 6, 2013.

Teaching Responsibilities

Formal Courses
Genetics in Epidemiology (since 1981): This is an advanced master’s or doctoral level course in the Department of Epidemiology, Mailman School of Public Health Columbia University.  Enrollment: 20-40 students per year.

Guest lectures: 
Mailman School of Public Health Executive MS in Epidemiology
Genetic Approaches to Biological Problems (G6211y)
Molecular Epidemiology: Principles and Practice (P8307)

Committees / Societies / Memberships

American Epilepsy Society
American Academy of Neurology
American Society of Human Genetics
International Genetic Epidemiology Society
Society for Epidemiologic Research

Honors and Awards

  • B.A. in Zoology conferred with Distinction in General Scholarship, University of California (Berkeley), 1975
  • Sergievsky Fellow, Gertrude H. Sergievsky Center, 1981 83
  • Sergievsky Scholar, Gertrude H. Sergievsky Center, 1984 1986
  • Fellow, Center for Advanced Study in the Behavioral Sciences (Stanford, CA), 2007-08
  • Recipient, American Epilepsy Society Research Recognition Award, 2014

NIH Grants

  • IMPACT OF RECEIVING ALZHEIMER S DISEASE GENETIC RISK INFORMATION AMONG LATINOS IN NORTHERN MANHATTAN (Federal Gov)

    Feb 15 2020 - Nov 30 2024

    PSYCHOSOCIAL IMPACT OF GENETICS IN EPILEPSY (Federal Gov)

    May 1 2018 - May 31 2023

    CENTERFOR RESEARCH ON ETHICAL, LEGAL & SOCIAL IMPLICATIONS OF PSYCHIATRIC, NEUROLOGIC & BEHAVIORAL GENETICS (Federal Gov)

    Sep 17 2018 - Jun 30 2022

    IDENTIFICATION OF SUSCEPTIBILITY GENES FOR ESSENTIAL TREMOR (Federal Gov)

    May 1 2015 - May 31 2020

    IDENTIFICATION OF SUSCEPTIBILITY GENES FOR ESSENTIAL TREMOR (Federal Gov)

    Aug 1 2015 - May 31 2020

    EPIDEMIOLOGY OF FAMILIAL LATE-ONSET ALZHEIMER S DISEASE (Federal Gov)

    Apr 15 2012 - Mar 31 2019

    CENTERFOR RESEARCH ON ETHICAL, LEGAL AND SOCIAL IMPLICATIONS OF PSYCHIATRIC, NEUROLOGIC AND BEHAVIORAL GENETICS (Federal Gov)

    May 3 2013 - Aug 31 2018

    CENTERFOR RESEARCH ON ETHICAL, LEGAL AND SOCIAL IMPLICATIONS OF PSYCHIATRIC, NEUROLOGIC AND BEHAVIORAL GENETICS (Federal Gov)

    May 3 2013 - May 31 2018

    CENTERFOR RESEARCH ON ETHICAL, LEGAL AND SOCIAL IMPLICATIONS OF PSYCHIATRIC, NEUROLOGIC AND BEHAVIORAL GENETICS (Federal Gov)

    May 3 2013 - May 31 2018

    EPIDEMIOLOGY OF FAMILIAL LATE-ONSET ALZHEIMER S DISEASE (Federal Gov)

    Apr 15 2012 - Mar 31 2017

    EPIDEMIOLOGY OF FAMILIAL LATE-ONSET ALZHEIMER S DISEASE (Federal Gov)

    Apr 1 2012 - Mar 31 2017

    EPI4K - PHENOTYPING AND CLINICAL INFORMATICS CORE (Federal Gov)

    Oct 1 2011 - Aug 31 2016

    PSYCHOSOCIAL IMPACT OF GENETICS IN EPILEPSY (Federal Gov)

    Apr 1 2012 - Mar 31 2016

    PSYCHOSOCIAL IMPACT OF GENETICS IN EPILEPSY (Federal Gov)

    Apr 1 2012 - Mar 31 2016

    PROJECT 2 EPI4K: GENE DISCOVERY IN 4000 EPILEPSY GENOMES (Federal Gov)

    Sep 1 2011 - Aug 31 2014

    THE EPILEPSY PHENOME/GENOME PROJECT (EPGP) (Federal Gov)

    May 1 2007 - Apr 30 2014

    CENTERFOR ELSI RESEARCH ON PSYCHIATRIC, NEUROLOGIC, AND BEHAVIORAL GENETICS (Federal Gov)

    Jun 1 2010 - Apr 30 2014

    VALIDATION OF A STANDARDIZED DIAGNOSTIC INTERVIEW FOR EPILEP SY (Federal Gov)

    Sep 1 2009 - Aug 31 2012

    THE EPILEPSY PHENOME GENOME PROJECT (Federal Gov)

    May 1 2007 - Apr 30 2012

    WHOLE GENOME SEQUENCING IN MULTIPLEX EPILEPSY FAMILIES (Federal Gov)

    Sep 30 2009 - Aug 31 2011

    GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURES (Federal Gov)

    Apr 1 1997 - Nov 30 2010

    GENETIC EPIDEMIOLOGY OF PARKINSON'S DISEASE (Federal Gov)

    Jul 1 1998 - Sep 29 2010

    GENTIC EPIDEMIOLOGY OF SEIZURE DISORDERS IN ROCHESTER (Federal Gov)

    Aug 15 2002 - May 31 2010

    ENVIRONMENTAL EPIDEMIOLOGY OF ESSENTIAL TREMOR (Federal Gov)

    Dec 1 1999 - Apr 30 2009

    THE EPIDEMIOLOGY OF DEMENTIA IN AN URBAN COMMUNITY (Federal Gov)

    Aug 15 1999 - Jun 30 2004

Publications

  1. Ottman R, Annegers JF, Hauser WA, Kurland LT. Higher risk of seizures in offspring of mothers than of fathers with epilepsy. Am J Hum Genet 1988;43:257-264.  PMC1715377.
  2. Ottman R. An epidemiologic approach to gene-environment interaction. Genet Epidemiol 1990;7:177-185.  PMC2819318.
  3. Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, Nagle KJ, Lee KS, Scheuer ML, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 1995;10:56-60.  PMC2823475.
  4. Ottman R. Gene-environment interaction: definitions and study designs. Prev Med 1996;25:764-770.  PMC2823480.
  5. Ottman R, Lipton RB. Is the comorbidity of epilepsy and migraine due to a shared genetic susceptibility? Neurology 1996;47:918-924.  PMC2791701.
  6. Ottman R, Annegers JF, Risch N, Hauser WA, Susser M. Relations of genetic and environmental factors in the etiology of epilepsy. Ann Neurol 1996;39:442-449.  PMC2737460.
  7. Ottman R, Hauser WA, Barker-Cummings C, Lee JH, Risch N. Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results. Am J Hum Genet 1997;60:667-675.  PMC1712524.
  8. Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Boneschi FM, 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. Nat Genet 2002;30:335-341.  PMC2606053.
  9. Rosanoff MJ, Ottman R. Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2008;71:567-571.  PMC2652575.
  10. Ottman R, Lipton RB, Ettinger AB, Cramer JA, Reed ML, Morrison A, Wan GJ. Comorbidities of epilepsy: results from the Epilepsy Comorbidities and Health (EPIC) survey. Epilepsia 2011;52:308-315. PMID: 21269285.
  11. Winawer MR, Connors R, the EPGP Investigators. Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia 2013;54:288-295.  PMC3566298.
  12. Okeke JO, Tangel VE, Sorge ST, Hesdorffer DC, Winawer MR, Goldsmith J, Phelan JC, Chung WK, Shostak S, Ottman R. Genetic testing preferences in families containing multiple individuals with epilepsy. Epilepsia 2014;55:1705-1713. PMC4232990.
  13. Peljto AL, Barker-Cummings C, Vasoli VM, Leibson CL, Hauser WA, Buchhalter JR, Ottman R. Familial risk of epilepsy: a population-based study. Brain 2014;137:795-805.  PMC3927702.
  14. Ottman R, Freyer C, Mefford HC, Poduri A, Lowenstein DH, Epilepsy Return of Results Workshop Participants. Return of individual results in epilepsy genomic research: A view from the field. Epilepsia 2018;59:1635-1642.  PMC6119474.
  15. Insel BJ, Ottman R, Heiman GA. Mood disorders in familial epilepsy: A test of shared etiology. Epilepsia 2018;59:431-439.  PMC5803440
  16. Nakamura J, Sorge ST, Winawer MR, Phelan JC, Chung WK, Ottman R. Reproductive decision-making in families containing multiple individuals with epilepsy. Epilepsia 2021;62:1220-1230.  PMC8096692

For a complete list of publications, please visit PubMed.gov