B3497 - Investigating the Genetic Architecture and Risk Factors of Epilepsy - 07/04/2020

B number: 
B3497
Principal applicant name: 
Benjamin Neale | Stanley Center for Psychiatric Research, Broad Institute (USA)
Co-applicants: 
Yen-Chen Anne Feng, Daniel Howrigan
Title of project: 
Investigating the Genetic Architecture and Risk Factors of Epilepsy
Proposal summary: 

Epilepsy is a neurological disorder that affects one percent of the population. Genetic factors play a role in epilepsy, but the full spectrum of the genetic architecture for this disorder is unknown. Previous work indicates that rare variation may contribute to epilepsy risk, but large sample sizes are required to increase the likelihood of identifying new risk genes or variants. The goal of this project is to investigate the genetic components of epilepsy in a large, well-characterized epilepsy cohort, in collaboration with Epi25, a consortium of over 50 epilepsy investigators. Whole exome sequencing (WES) data from epilepsy samples generated at the Broad Institute will be analyzed with ALSPAC WES data and other locally available or dbGaP-sourced controls to identify genes or variants associated with epilepsy. The inclusion of the ALSPAC data will be a valuable contribution to increase power in downstream analyses.

Impact of research: 
This research aims to identify individual risk genes for epilepsy and to elucidate the shared and distinct gene discoveries across the severity spectrum for epilepsy syndromes. This will improve our understanding of the genetic etiology of epilepsy associated with rare coding variants, provide gene targets for functional follow-up, and ultimately have the potential to facilitate precision medicine strategies in the treatment of epilepsy.
Date proposal received: 
Monday, 6 April, 2020
Date proposal approved: 
Tuesday, 7 April, 2020
Keywords: 
Genetics, Epilepsy, Statistical methods, Genetics, Genomics, Neurology, Statistical methods