Ruth Ottman, PhD

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.