Epilepsy is one of the most common neurological disorders, affecting approximately 3% of the population. Next-generation sequencing has been tremendously successful in identifying epilepsy causing mutations. The IGM’s Precision Medicine Initiative in epilepsy genomics seeks to sequence all adult and pediatric New York-Presbyterian patients with non-acquired epilepsy to interpret their genomes, identify causal epilepsy genetic variants, and use this data for targeted therapeutic trials.
We have established research programs aimed at identifying epilepsy genes and understanding the molecular mechanisms behind gene mutations that cause epilepsy. We use the latest nuclear reprogramming and/or genome editing techniques (CRISPR/Cas9) to generate animal, human induced pluripotent stem cell (hiPSC), and non-stem cell models of epilepsy-causing mutations in order to study the development and physical properties of neural networks, neurogenesis, in vivo seizure thresholds and associated behavior. Our cell-based and animal models are also being used to discover and test new therapies designed to treat phenotypes that correlate with those seen in patients.