Ruth Ottman, PhD
Professor of Epidemiology and Neurology
Deputy Director for Research, G.H. Sergievsky Center
Office Telephone: 212-305-7892
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Dr. Ottman received her Ph.D. 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 the predoctoral training director of the Genetics of Complex Diseases Training Program and the biological sciences core leader of the Robert Wood Johnson Health and Society Scholars Program, both based at the Mailman School of Public Health. She is a member of the Clinical Research Task Force of the American Epilepsy Society and the Genetics Commission of the International League Against Epilepsy. Her research focuses on the genetic influences on seizure disorders.
Ottman's group was the first to recognize the syndrome "autosomal dominant partial epilepsy with auditory features" (ADPEAF), a genetic form of lateral temporal lobe epilepsy with auditory symptoms and receptive aphasia as major seizure manifestations. After identifying a single large family with the syndrome, they used positional cloning to identify the causative gene, LGI1, in the original family and four others. Since the original gene identification, they have found that approximately 30% of families meeting clinical criteria for ADPEAF have mutations in LGI1, and 67% of individuals who inherit a mutation develop epilepsy. Unlike almost all of the ~25 other genes identified in Mendelian forms of epilepsy so far, LGI1 does not encode an ion channel. Study of the mechanism by which it influences susceptibility is an extremely active area of basic neuroscience research that is leading to new concepts about epileptogenesis.
To identify other genes that raise risk for epilepsy, Ottman's group has assembled a database of about 100 families containing multiple individuals with various forms of epilepsy. They have carried out genetic linkage analysis in these families and are collaborating with David Goldstein, Ph.D., at Duke University, in studies using next generation sequencing to identify the causative genes.