Ruth Ottman, PhD
- Professor of Epidemiology (in Neurology and the Gertrude H. Sergievsky Center)
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 Epidemiology, New York State Psychiatric Institute.
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 currently a coinvestigator in the Epilepsy Phenome/Genome Project, a large consortium whose aim is to collect dense phenotypic information and DNA on ~3500 individuals with epilepsy, to be used for gene discovery, and is also a principal investigator of Epi4K, a NINDS-funded Center without Walls for Research on the Epilepsies, whose goal is to identify genes that influence risk for epilepsy by sequencing the genomes of 4,000 affected individuals. 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 issues related to genomic analysis and genetic testing in the epilepsies. This work includes qualitative research and a much larger NIH-funded study that uses quantitative (survey) research methods and will include more than 1,000 individuals from families containing multiple individuals with epilepsy.
Dr. Ottman developed and teaches the course in genetic epidemiology in the Epidemiology Department of the Mailman School of Public Health, and she co-founded the Columbia University Seminar on Genetic Epidemiology, a forum for discussion of issues of interest to genetic epidemiologists throughout the New York area, which has been active since 1982.
Dr. Ottman's research addresses the role of inherited factors in susceptibility to common disorders, primarily focusing on seizure disorders and epilepsy. 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.
- Department of Neurology
Division of Division of Epilepsy and Sleep
(in addition to English)
- Gertrude H. Sergievsky Center
- Taub Institute for Research on Alzheimer's Disease and the Aging Brain
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
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.
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.
Mailman School of Public Health Executive MS in Epidemiology
Genetic Approaches to Biological Problems (G6211y)
Molecular Epidemiology: Principles and Practice (P8307)
American Epilepsy Society
American Academy of Neurology
American Society of Human Genetics
International Genetic Epidemiology Society
Society for Epidemiologic Research
Honors & 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
Finalist, American Epilepsy Society Research Recognition Award, 2009, 2010, 2013
PSYCHOSOCIAL IMPACT OF GENETICS IN EPILEPSY (Federal Gov)
May 1 2018 - May 31 2023
CENTER FOR 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
EPIDEMIOLOGY OF FAMILIAL LATE-ONSET ALZHEIMER S DISEASE (Federal Gov)
Apr 15 2012 - Mar 31 2019
PSYCHOSOCIAL IMPACT OF GENETICS IN EPILEPSY (Federal Gov)
Apr 1 2012 - Mar 31 2017
EPI4K - PHENOTYPING AND CLINICAL INFORMATICS CORE (Federal Gov)
Oct 1 2011 - Aug 31 2016
PROJECT 2 EPI4K: GENE DISCOVERY IN 4000 EPILEPSY GENOMES (Federal Gov)
Sep 1 2011 - Aug 31 2014
CENTER FOR ELSI RESEARCH ON PSYCHIATRIC, NEUROLOGIC, AND BEHAVIORAL GENETICS (Federal Gov)
Jun 1 2010 - Apr 30 2014
THE EPILEPSY PHENOME/GENOME PROJECT (EPGP) (Federal Gov)
May 1 2007 - Apr 30 2014
THE EPILEPSY PHENOME GENOME PROJECT (Federal Gov)
May 1 2007 - Dec 31 2012
THE EPILEPSY PHENOME/GENOME PROJECT (EPGP) (Federal Gov)
May 1 2007 - Dec 31 2012
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 (Federal Gov)
Sep 30 2009 - Aug 31 2011
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
1. Heiman GA, Kamberakis K, Gill R, Kalachikov S, Pedley TA, Hauser WA, Ottman R. Evaluation of depression risk in LGI1-related epilepsy. Epilepsia 2010;51:1685–1690. PMC2939248
2. Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay , Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NLM, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB. The characterization of twenty sequenced human genomes. PLOS Genet 2010; 6(9): e1001111. doi:10.1371/journal.pgen.1001111. PMC2936541
3. Alcalay RN, Siderowf A, Ottman R, Caccappolo E, Mejia-Santana H, Tang M, Rosado L, Louis ED, Ruiz D, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Ross B, Verbitsky M, Kisselev S, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Rezak M, Novak KE, Friedman JH, Pfeiffer RF, Marsh L, Hiner B, Clark LN, Marder KS. Olfaction in parkin heterozygotes and compound heterozygotes: the CORE-PD study. Neurology 2011;76:319-326. PMC3034420
4. Caccappolo E, Alcalay RN, Mejia-Santana H, Tang MX, Rakitin B, Rosado L, Louis ED, Comella CL, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner CM, Mickel S, Andrews H, Waters C, Fahn S, Cote LJ, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf AD, Ross BM, Verbitsky M, Kisselev S, Ottman R, Clark LN, Marder K. Neuropsychological profile of parkin mutation carriers with and without Parkinson disease: the CORE-PD study. J Int Neuropsychol Soc 2011;17:91-100.
5. 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 2011;76:390-396. PMC3034416
6. 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.
7. Madsen AM, Hodge SE, Ottman R. Causal models for investigating complex disease. I. A Primer. Hum Hered 2011;72:54–62. PMC3190172
8. 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 Hered 2011;72:63–72. PMC3190173
9. Shostak S, Zarhin D, Ottman R. What’s at stake? Genetic information from the perspective of people with epilepsy and their family members. Social Science & Medicine 2011;73:645-654. PMC3163050
10. Srivastava A, Tang MX, Mejia-Santana H, Rosado L, Louis ED, Caccappolo E, Comella C, Colcher A, Siderowf A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Alcalay RN, Ross B, Orbe Reilly M, Rezak M, Novak K, Friedman JH, Pfeiffer RD, Marsh L, Hiner B, Merle D, Ottman R, Clark LN, Marder K. The relation between depression and parkin genotype: the CORE-PD study. Parkinsonism Relat Disord 2011;17:740-744. PMC3221786.
11. Ionita-Laza I, Ottman R. Study designs for identification of rare variants in complex diseases: the utility of family-based designs. Genetics 2011;189:1061-1068. PMC3213373
12. Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S, Louis E, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Ottman R, Clark LN, Marder K. Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology 2012;78:1434-1440. PMC3345785.
13. Ho Y-Y, Ionita-Laza I, Ottman R. Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF. Neurology 2012;78:563–568. PMC3280014
14. Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M, The EPGP Investigators. The Epilepsy Phenome/Genome Project (EPGP) informatics platform. Int J Med Inform 2013;82:248-259. PMC3655424
15. The Epi4K Consortium. Epi4K: Gene discovery in 4,000 genomes. Epilepsia 2012;53:1457-1467. PMC3418423
16. Van Gompel JJ, Ottman R, Worrell GA, Marsh R, Wetjen NM, Cascino GD, Meyer FB. Use of anterior temporal lobectomy for epilepsy in a community-based population. Arch Neurol 2012;69:1476-1481. PMC3526693.
17. Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet 2012;91:293-302. PMC3415540
18. Helbig I, Hodge SE, Ottman R. Familial cosegregation of rare genetic variants with disease in complex disorders. Eur J Hum Genet 2013;21:444-450. PMC3598309.
19. Louis ED, Hernandez N, Alcalay RN, Tirri DJ, Ottman R, Clark LN. Prevalence and features of unreported dystonia in a family study of "pure" essential tremor. Parkinsonism Relat Disord 2013;19:359-362. PMC3565033
20. Louis ED, Hernandez N, Ionita-Laza I, Ottman R, Clark LN. Does rate of progression run in essential tremor families? Slower vs. faster progressors. Parkinsonism Relat Disord 2013;19:363-366. PMC3578031
21. Louis ED, Hernandez N, Rabinowitz D, Ottman R, Clark LN. Predicting age of onset in familial essential tremor: How much does age of onset run in families? Neuroepidemiology 2013;40:269-273. PMC3718305
22. Winawer MR, Connors R, the EPGP Investigators. Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia 2013; 54:288-295. PMC3566298
23. Louis ED, Hernandez N, Clark LN, Ottman R. Familial aggregation of cranial tremor in essential tremor. Neuroepidemiology 2013;41:48-53. PMC3770156.
24. Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF, Genetics Commission of the International League Against Epilepsy. SCN1A testing for epilepsy: Application in clinical practice. Epilepsia 2013;54:946-952.
25. The EPGP Collaborative. The Epilepsy Phenome/Genome Project. Clinical Trials: Journal of the Society for Clinical Trials 2013;10:568-586.
26. Epi4K and EPGP Investigators. De novo mutation in epileptic encephalopathies. Nature 2013;501:217-221. PMC3773011.
27. Shain C, Ramgopal S, Fallil Z, Parulkar I, Alongi R, Knowlton R, Poduri A, the EPGP Investigators. Polymicrogyria-associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia 2013;54:1368-1375.
28. Friedman D, Fahlstrom R, EPGP Investigators. Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP). Epilepsy Res 2013;107:306-310.
29. Louis ED, Ottman R. Is there a one way street from essential tremor to Parkinson’s disease -- Possible biological ramifications. Eur J Neurol 2013;20:1440-1444. PMC3801177
30. Widdess-Walsh P, Dlugos D, Fahlstrom R, Joshi S, Shellhaas R, Boro A, Sullivan J, Geller E, the EPGP Investigators. Lennox-Gastaut syndrome of unknown cause: Phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. Epilepsia 2013;54:1898-1904.
31. Salm M, Abbate K, Appelbaum P, Ottman R, Chung W, Marder K, Leu C-S, Alcalay R, Goldman J, Curtis AM, Leech C, Taber KJ, Klitzman R. Use of genetic tests among neurologists and psychiatrists: Knowledge, attitudes, behaviors, and needs for training. J Genetic Counseling 2013 (in press). PMC3812264
32. Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M –X, Rosado L, Orbe Reilly M, Ruiz D, Louis ED, Comella, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Nutt J, Serrano C, Arroyo M, Ottman R, Pauciulo M, Nichols W, Clark LN, Marder K. Cognitive and motor function in long duration PARKIN PD. JAMA Neurol 2014 (in press).
33. Vardarajan B, Faber KM, Bird TD, Bennett DA, Rosenberg R , Boeve B, Graff-Radford NR, Goate AM, Farlow M, Sweet RA, Lantigua R, Medrano MZ , Ottman R, Schaid DJ, Foroud TM, Mayeux R, for The NIA-LOAD/NCRAD Family Study Group. Age-specific incidence rate for dementia and late onset Alzheimer’s disease in unaffected family members in the NIA-LOAD/NCRAD Family Study. JAMA Neurol 2014 (in press).
34. 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. doi: 10.1093/brain/awt368.
35. Louis ED, Hernandez N, Ionita-Laza I, Ottman R, Clark LN. “Essential tremor” in a Charcot-Marie-Tooth type 2c kindred does not segregate with the TRPV4 R269H Mutation. Case Reports Neurol 2014 (in press).
36. Klitzman R, Abbate KJ, Chung WK, Ottman R, Leu C-S, Appelbaum PS. Views of preimplantation genetic diagnosis (PIGD) among psychiatrists and neurologists. Journal of Reproductive Medicine 2014 (in press).
37. Louis ED, Ottman R, Hernandez N, Ionita-Laza I, Clark LN. Clinical classification of borderline cases in a family study of essential tremor. Tremor and Other Hyperkinetic Movements 2014 (in press).
38. Abbate KJ, Chung W, Marder K, Ottman R, Taber KJ, Leu C-S, Appelbaum PS. Psychiatrists’ views of the genetic bases of mental disorders and behavioral traits and their utilization of genetic tests. J Nerv Ment Dis 2014 (in press).
For a complete list of publications, please visit PubMed.gov