Rare epilepsies are a devastating group of diseases that begin in childhood, and are often associated with profound neurologic, medical, and psychiatric disabilities. Zachary Grinspan, M.D., M.S., is leading a team that has been approved for a $900,000 grant from the Centers for Disease Control and Prevention.
This grant will enable them to assemble a cohort of individuals with rare epilepsies by collecting electronic clinical notes from five New York-based academic medical centers. Using their expertise in pediatric epilepsy, epidemiology, and biomedical informatics, investigators on the team will analyze these data to determine the incidence and prevalence of rare epilepsies in New York City. They will examine the effects of sociodemographic factors on patterns of care and will study differences among various ethnic, cultural, and population groups.
“Currently, we only have a few epidemiologic estimates for most forms of epilepsy. Tuberous sclerosis, for example, affects 1 out of every 5,700 live births. However, for many forms of epilepsy, estimates are limited to counts of known cases. And for others, there are no estimates at all,” explains Dr. Grinspan.
The project involves collaboration with multiple academic medical centers and research organizations. Here at Weill Cornell Medical Center, Stephen Johnson, Ph.D. will lend his expertise in natural language processing. There are also key collaborators at Columbia University Medical Center (Dale Hesdorfer, Ph.D., M.P.H. and Tiffani McDonough, M.D.), Montefiore Medical Center (Elisa Yozawitz, M.D.), NYU Langone Medical Center (Aaron Nelson, M.D.), and Mount Sinai Health System (Steven Wolf, M.D. and Patricia McGoldrick, N.P., M.P.A.). Finally, the project will receive key support from the Rare Epilepsy Network, a federally funded initiative to link advocacy groups for several rare epilepsies into a unified research program.
“I am tremendously excited about this project. For people with rare epilepsies, our work will guide clinical diagnosis and management, support research initiatives, spur pharmaceutical and medical device development, and help families understand these devastating diseases,” says Dr. Grinspan.
Dr. Zachary Grinspan is an assistant professor of pediatrics, assistant professor of healthcare policy and research, the director of clinical research for the Division of Child Neurology, and the Nanette Laitman Clinical Scholar in Public Health/Community Health within the Department of Healthcare Policy and Research at Weill Cornell Medical College.