EPGP and EPI4K

Using seed money from FACES, New York University and the University of California San Francisco organized The Epilepsy Phenome/Genome Project (EPGP). More than 25 major epilepsy centers and over 100 investigators and colleagues throughout the United States, Canada and Australia collaborated to create a powerful database on epilepsy. EPGP has recruited over 4,100 epilepsy patients, family members, and control individuals to study the relationship between clinical and genetic data.

Epi4K is a collaborative multicenter NINDS-supported study that was formed with the goal of sequencing and analyzing the genomes of a minimum of 4,000 patients with highly selected and well-characterized epilepsy. The Epi4K project has facilitated additional genetic study of trios recruited through EPGP. Work from Epi4K thus far has led to the definitive identification of multiple genes with mutations that may cause epileptic encephalopathies.  Epi4K recruitment efforts at NYU also aim to increase the racial and ethnic diversity of subjects represented in genetic studies of epilepsy. 

Work from EPGP and ongoing studies from Epi4K have proven that extremely large sequencing studies are needed to in order to understand the heritability of epilepsy. Because this requires a global effort, NYU is also participating in Epi25, which is a consortium of over 200 collaborators representing over 60 research groups from Europe, Asia, Oceania, Africa, and the Americas with the aim of performing large scale genetic analysis of over 40,000 participants.