Location and Contact Information
The Ottman lab is engaged in research in two broad areas:
- Genetic epidemiology of the epilepsies
- Ethical, legal, and social implications (ELSI) of genetic research and practice in neurologic disorders
Their research on the genetic epidemiology of the epilepsies has included studies of levels of familial aggregation, shared vs. distinct familial risk for different epilepsy types, patterns of comorbidity (e.g., with migraine and depression), reproductive rates in persons with epilepsy, etc. They used the resources of the population-based Rochester Epidemiology Project to assemble a database for these studies that includes the families of all 1,056 Rochester, Minnesota residents born in 1920 or later with incidence of epilepsy from 1935-1994. In separate work, they also collected clinical and genetic data on nearly 100 families containing multiple persons with epilepsy, to be used for studies aimed at gene identification. Some of these families were found to have a form of epilepsy known as autosomal dominant epilepsy with auditory features (ADEAF), which Ottman’s group first recognized and mapped to chromosome 10q24 in 1995, and later found to be caused in some families by mutations in the gene LGI1.
Their ELSI studies are focusing on both epilepsy and Alzheimer disease. In epilepsy, they are assessing the psychosocial impacts, among persons with epilepsy and their family members, of genetic attribution (i.e., the belief that epilepsy has a genetic cause) and receiving actual genetic test results. In a previous study, they surveyed members of families containing multiple persons with epilepsy who had participated in Ottman’s genetic studies. They also offered clinical genetic testing for LGI1 to the families with ADEAF and conducted qualitative interviews to assess the impact of receiving or not receiving genetic results. In their current study, they are addressing similar issues in a more diverse and representative sample consisting of patients being treated for epilepsy at CUIMC.
Their other current ELSI study is focused on late-onset Alzheimer disease (LOAD). They are assessing the psychosocial, behavioral, and cognitive impacts of receiving an estimate of the risk for LOAD to age 85, among Latinx persons aged 40-64 who reside in northern Manhattan. Participants receive an initial Baseline Survey and Introductory Session in which they learn about AD, genetics, and the study. Then they are randomized to receive a risk estimate for LOAD based either on (a) Latinx self-identification and family history alone (genotype nondisclosure group), or (b) the same factors plus APOE genotype (genotype disclosure group). Impacts are evaluated at 6 weeks, 9 months, and 18 months after risk assessment, using both surveys (including a memory test) and in-depth qualitative interviews.