Epilepsy NeuroGenetics Initiative (ENGIN)

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The Epilepsy NeuroGenetics Initiative (ENGIN) is leading the way toward the discovery of new genetic causes of epilepsy, a better understanding of known genetic epilepsy syndromes, diagnostic testing for more patients and families with epilepsy, and the development of novel mechanistically oriented treatments for genetic epilepsies.

Epilepsy is one of the most common chronic neurological conditions of childhood, affecting 1 to 2 percent of all children in the United States. More than half of these cases has a genetic basis.

The research arm of the program aims to develop novel precision therapies for genetic epilepsies in experimental model systems including neurons and organoids ("minibrains") generated from patient-derived induced pluripotent stem (iPS) cells as well as animal models of human epilepsy, with the goal of piloting identified compounds in the clinic.

In partnership with the Pediatric Epilepsy Program and the Epilepsy and Functional Neurosurgery Program at CHOP, ENGIN is formally integrating genetics into the diagnosis and care of children with epilepsy. By bringing together clinical care and research components, ENGIN seeks to provide individualized treatment plans involving pharmacotherapy, dietary therapy, and resective or implanted device-based neurosurgical approaches, and to translate research directly into the development of new therapies that will benefit children worldwide.

Here are some highlights of the program's research efforts:

  • Discover new epilepsy genes to map the genetic landscape of pediatric epilepsy
  • Use advanced data analysis to extract syndrome-specific information from the electronic medical record to identify optimal treatment and predict complications
  • Analyze tissue resected during epilepsy surgery to identify somatic mosaic mutations that underlie nonlesional epilepsy that are not otherwise identifiable
  • Model epilepsy using human neurons and organoids ("minibrains") generated from patient-derived iPS cells
  • Work with animal models to treat epilepsy using transplants of seizure-suppressing cells, optogenetics, and novel precision pharmaceuticals
  • Advance clinical trial design for rare/ultra-rare disorders.

ENGIN received Frontier Program status for Fiscal Year 2020. In addition to the director and co-director, ENGIN program leadership includes core faculty members Dennis Dlugos, MD, MSCE; Ingo Helbig, MD; Eric D. Marsh, MD, PhD; Sudha K. Kessler, MD, MSCE; and Benjamin C. Kennedy, MD

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Leaders

Ethan Goldberg, MD, PhD

Director

Katherine L. Helbig, MS, LCGC

Co-Director