ABOUT THE INITIATIVE
Made possible by a generous contribution from the John and Barbara Vogelstein Foundation, Epilepsy Genetics Initiative (EGI), a Signature Program of CURE Epilepsy, is advancing our understanding of the genetic causes of epilepsy. The vision is to improve the ways we prevent, diagnose, and treat this devastating disease. EGI is an initiative created to bridge the gap between people with epilepsy, clinicians, and researchers, and to advance precision medicine in epilepsy. EGI’s centralized database holds the genetic (exome) data of people with epilepsy, and the data will be analyzed and reanalyzed until the cause of the patient’s epilepsy is found. Findings will then be reported to the patient’s treating physician and the data will be made available to advance cutting-edge research projects.
CURE EPILEPSY HAS BEEN A LEADER IN EPILEPSY GENETICS BY:
- Making exome data available for research.
- Identifying new genes associated with epilepsy as a result of reanalysis of exome data.
- Identifying treatments to try; treatments to avoid; and risk for SUDEP for certain genetic cases of epilepsy.
- Facilitating the collection of exome data to advance research; EGI has partnered with 20 institutions, both US-based and abroad.
- Elevating awareness and funding.
- Helping doctors diagnose patients. To date over 1,000 enrollments; with analysis already identifying a genetic diagnosis in several patients, including the identification of a new gene associated with epilepsy.
- Advancing precision medicine in epilepsy, exome data from EGI is currently being used to inform targeted research studies.