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Epilepsy Genetics Initiative

Many people don't know the cause of their epilepsy, but genetic research is changing that. The Epilepsy Genetics Initiative was founded to help broaden our understanding of the genetic causes of epilepsy - leading us toward personalized medicine, and bringing us one step closer to a cure.

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, 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 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 nearly 20 institutions, both US-based and abroad.
  • Elevating awareness and funding.
  • Helping doctors diagnose patients. To date over 750 enrollments; with analysis already identifying a genetic diagnosis in ten patients.
  • Advancing precision medicine in epilepsy, exome data from EGI is currently being used to inform targeted research studies.

 

Learn More

 

Related Research

Silencing Hyperactive Neurons as a Treatment for Temporal Lobe Epilepsy
Edward Perez-Reyes, PhD
University of Virginia
Toward an Innovative Treatment for Pyridoxine-Dependent Epilepsy
Paula Waters, PhD
University of British Columbia/British Columbia Children's Hospital
Neuro-Cardiac Genetic Basis of Sudden Unexpected Death in Epilepsy (SUDEP)
Chris Semsarian, PhD
University of Sydney

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