SCIENTIFIC ADVISORY BOARD
KCNQ2 encephalopathy is a severe epilepsy and developmental disorder beginning in the newborn period. While epilepsy may settle in infancy, the child’s development may often be very impaired. Other co-morbidities can occur such as autism spectrum disorder. Research and collaboration are the way forward to improve the lives of children and their families living with KCNQ2 encephalopathy.
- Professor Ingrid Scheffer
Edward Cooper, MD, PhD
Baylor College of Medicine
Ed Cooper is an associate professor of Neurology, Neuroscience, and Molecular & Human Genetics at the Baylor College of Medicine in Houston, Texas. He earned his professional degrees from Yale University and completed his post-doctoral program and neurology residency at the University of California San Francisco. He heads up The Cooper Laboratory for molecular neuropharmacology and the RIKEE project, a multicenter patient registry to study KCNQ2/3 variants and characteristics.
Orrin Devinsky, MD, PhD
New York University School of Medicine
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, ganaxolone, CDKL5, autism, clinical-genetic correlations, healthful behavioral changes, sudden death syndromes, therapeutic electrical stimulation, quality-of-life enhancement, cognitive and behavioral issues, and surgical therapy.
Professor Devinsky 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, and Loulou Foundation CDKL5 Program of Excellence. He serves as the lead investigator for the Epidiolex Dravet and Lennox-Gastaut studies. He founded Finding A Cure for Epilepsy and Seizures (FACES) and co-founded the Epilepsy Therapy Project. Outside interests include behavioral neurology, evolutionary biology and history of neuroscience.
Peter De Jonghe, MD, PhD
University of Antwerp
Peter DeJonghe, MD is a Professor of Neurology at the University of Antwerp, Belgium. His research group focuses on the clinical and molecular genetic aspects of monogenic Rare Epilepsy Syndromes (RES), Inherited Peripheral Neuropathies (IPN), Hereditary Spastic Paraplegia (HSP) or Strümpell-Lorrain disease, Hereditary Spinocerebellar and Cerebellar Ataxia (SCA and CA). He is on the Scientific Advisory Board for the KCNQ2 Registry, which seeks to educate and advance research, leading to treatments or a cure for patients with KCNQ2 epileptic encephalopathy.
David Goldstein, PhD
Columbia University Institute for Genomic Medicine
David Goldstein is a professor of genetics and development in the College of Physicians and Surgeons at Columbia University and director of the Institute for Genomic Medicine in partnership with NewYork-Presbyterian. Dr. Goldstein’s research has focused on identifying the relationship between human genetic variations and diseases. Prior to Columbia, Dr. Goldstein came from Duke University, where he has been director of the Center for Human Genome Variation and the Richard and Pat Johnson Distinguished University Professor, with appointments in the departments of molecular genetics & microbiology and biology. He joined Duke in 2005 after six years at University College London, which named him Honorary Professor in 2007. He received his PhD in biological sciences from Stanford University in 1994.
Ingrid Scheffer, MD, PhD
University of Melbourne
A pediatric neurologist and professor at the University of Melbourne and Florey Institute of Neuroscience and Mental Health, Professor Ingrid Scheffer is helping to transform the diagnosis and treatment of epilepsy, a brain disorder characterized by seizures and other symptoms that can be extremely disruptive to the lives of the 50 million people affected by it. She has described several new forms of epilepsy and her research group was the first to uncover a gene for epilepsy and subsequently, many of the genes now known to be implicated. These revolutionary findings, which have already improved diagnosis and treatments for many patients and may lead to the development of new therapies, can also be used for genetic counseling. Professor Scheffer’s goal is to ‘make a major difference to patients and families through science’. Professor Scheffer is a founding fellow of the Australian Academy of Health and Medical Sciences and currently its Vice-President.
Sarah Weckhuysen, MD, PhD
University of Antwerp
After obtaining her Neurology degree, Dr. Sarah Weckhuysen worked for some years as an epileptologist in the tertiary epilepsy center Kempenhaeghe in the Netherlands. This work with often treatment resistant epilepsy patients fueled her fascination for the underlying causes of (severe) epilepsies. In the last few years she therefore intensified her research activities at the Neurogenetics group of the University of Antwerp in Belgium, and obtained a PhD on the topic of genetics of epileptic encephalopathies. Her research interests are focused on the delineation of epileptic syndromes, and the genetics of (early onset) epilepsies and febrile seizures. She is also an active member and coordinator for the European consortium EuroEPINOMICS-RES, which focuses on the genetics of rare epilepsy syndromes.
H. Steve White, RPh, PhD
University of Washington School of Pharmacy
H. Steve White, RpH, Ph.D, earned his baccalaureate degree in Pharmacy and a M.S. in Pharmacology at Idaho State University. He earned his Ph.D. in Pharmacology at the University of Utah where he rose through the academic ranks after joining the College of Pharmacy faculty in 1986.
Before joining the University of Washington School of Pharmacy as Chair of the Department of Pharmacy, White was the principal investigator and scientific director of the NIH-sponsored Anticonvulsant Drug Development (ADD) Program, established in 1975 to identify novel anticonvulsant drugs using established animal seizure and epilepsy models.
White’s research is focused on understanding the factors that contribute to the initiation, propagation, and amelioration of seizure activity.
White has been the recipient of significant research funding from the National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), and he and his collaborators have published over 170 original papers pertaining to the mechanism of action and the pharmacology of antiepileptic drugs. In addition to his academic service, he served as Research Director of CURE (Citizen’s United for Research in Epilepsy), the largest non-governmental provider of epilepsy research funding, from November 2011 until October of 2015, where he assisted in the development of strategic programs that advance transformative epilepsy research that may someday lead to a cure or disease modifying therapy for the patient at risk for developing epilepsy. He continues to serve as a Research Advisor to CURE’s team-science initiatives. He has been a co-organizer of two NIH-sponsored workshops on models of refractory epilepsy and epileptogenesis and currently serves on the organizing committee of the biannual Eilat Conferences on Antiepileptic Drug Development. Additionally, White has been actively engaged as a mentor for the next generation of neuroscientists and epilepsy educators and is frequently invited to speak at national and international congresses.
In 2011, White received an Honorary Doctor of Science from The University of Copenhagen Faculty of Pharmaceutical Sciences, Copenhagen, Denmark. In 2014, he was named the 2014 recipient of the Epilepsy Foundation’s Lifetime Accelerator Award, in recognition of his commitment and pioneering contributions to the field of epilepsy and seizures.
White was appointed as the new chair for the Department of Pharmacy in January, 2016.