ANA Investigates Genetics in Epilepsies

Sep 27, 2022

The role of genetics in both pediatric and adult epilepsies is expanding. Now, making a genetic diagnosis in epilepsy isn’t just important for family planning and prognostication - these diagnoses can also improve patients’ care starting at the moment of diagnosis. Our guest today, Ingrid Scheffer, is a leader in gene discovery in epilepsy. Dr. Scheffer is a Laureate Professor of Pediatric Neurology at the University of Melbourne, and she directs the Children's Epilepsy Research Center at Austin Health. She says while there’s still a long way to go before precision medicine is available for the hundreds of known genetic epilepsies, her patients are already benefiting from genetic testing, in many ways. Dr. Scheffer was interviewed by ANA Investigates Producer and epileptologist Dr. Rohit Das of UT Southwestern Medical Center. Series 3, Episode 12.

Featuring:

• Guest: Ingrid Scheffer, AO FRS FAA FAHMS, University of Melbourne
• Interviewer/Producer: Rohit Das, MD, UT Southwestern
• Disclosures: In the past 24 months, Ingrid Scheffer has consulted for Atheneum Partners, Biohaven Pharmaceuticals Inc, Care Beyond Diagnosis, Epilepsy Consortium and Zynerba Pharmaceuticals, has served as an investigator for Anavex Life Sciences, Cerebral Therapeutics, Cerecin Inc, Cereval Therapeutics, Eisai, Encoded Therapeutics, EpiMinder Inc, Epygenyx, ES-Therapeutics, GW Pharma, Marinus, Neurocrine BioSciences, Ovid Therapeutics, Takeda Pharmaceuticals, UCB, Ultragenyx, Xenon Pharmaceutical, Zogenix and Zynerba; received speaker honoraria from Biocodex, BioMarin, Chiesi, Liva Nova and UCB; received funding for travel from Biomarin, Eisai and UCB; and served on scientific advisory boards for Bellberry Ltd, BioMarin, Chiesi, Eisai, Encoded Therapeutics, Knopp Biosciences, Rogcon, Takeda Pharmaceuticals and UCB. Ingrid Scheffer may accrue future revenue on pending patent WO2009/086591: Diagnostic And Therapeutic Methods For EFMR (Epilepsy And Mental Retardation Limited To Females); has a patent for SCN1A testing held by Bionomics Inc and licensed to various diagnostic companies (WO/2006/133508); she has a patent for a molecular diagnostic/therapeutic target for benign familial infantile epilepsy (BFIE) [PRRT2] WO/2013/059884 with royalties paid.