Translational Therapies for Epilepsy with Orrin Devinsky, MD

This talk will review the expanding role of genetic diagnoses in epilepsy care and treatment. First, the importance of making a genetic diagnosis is discussed - to inform families of the cause and to link them with other families and patients with similar disorders. In an increasing number of cases, understanding the specific gene and in some cases, the specific mutation, can directly impact the diagnostic evaluation and therapeutic options to consider and to avoid.

Orrin Devinsky, M.D. | Presenter

Orrin Devinsky is Professor of Neurology, Neurosurgery, and Psychiatry at the NYU School of Medicine, where he directs the Epilepsy Center. He also directs the Saint Barnabas Institute of Neurology. His epilepsy research includes cannabidiol, autism, genetic epilepsies, sudden death in epilepsy (SUDEP), healthful behavioral changes, therapeutic electrical stimulation, quality-of-life, cognitive and behavioral issues, and surgical therapy. He is the Principal Investigator for the North American SUDEP Registry and for the SUDC Registry and Research Collaborative. He is on the Executive Committee of the SUDEP Institute and Scientific Advisory Boards of the Epilepsy Foundation, Dup15q Alliance, Tuberous Sclerosis Association, KCNQ2 Cure Alliance Foundation, and Chairs the Loulou Foundation CDKL5 Program of Excellence. He serves as the lead investigator for the Epidiolex Dravet and Lennox-Gastaut studies and the PTC Ataluren study in genetic epilepsies. He founded Finding A Cure for Epilepsy and Seizures (FACES) and co-founded the Epilepsy Therapy Project and epilepsy.com. Outside interests include behavioral neurology, evolutionary biology and history of neuroscience.

Morgan Turpin, MB(ASCP), CGMBS | Moderator

Morgan earned a Bachelor of Science degree from the University of California, Irvine in 2007. She performed undergraduate research in a molecular genetics laboratory that specialized in creating pathogen-resistant mosquitoes. She has been a part of the clinical laboratory at Ambry Genetics since 2009. She earned her Clinical Laboratory Scientist license in 2010 through Ambry’s own CGMBS course. She also has a unique personal connection to the work that Ambry does. In 2013 her son was diagnosed with Dravet Syndrome, after a pathogenic sodium channel mutation was discovered through exome testing at Ambry. In addition to her work in the diagnostic genetics field, she also volunteers for the Dravet Syndrome Foundation, and writes articles for various disability-centered websites to spread awareness about the challenges of raising a child with a complex medical condition.