“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, Pediatric Neurologist, Physician Scientist
University of Melbourne & Florey Institute
Dr. Edward Cooper
“As a laboratory physiologist and clinical neurologist. my goal is to speed the translation of basic brain science into better treatments, cures, and preventing interventions for epilepsy and related disorders that affect children and adults. I am focused on understanding the mechanisms underlying the brain’s fast long-distance signal, known as the action potential. Action potentials carry signals from our sensory organs to the brain, from the brain to our muscles, and within the brain’s circuits for thought, emotion, and memory. The key molecules for the action potential, called sodium and potassium channels, are very central to many issues in epilepsy. Sodium and potassium channel genes are frequently involved when epilepsy in a family occurs due to single-gene mutation. Sodium and potassium channels are also targets of many of the known anti-epileptic drugs. We helped to discover the role KCNQ potassium channels play in the action potentials of brain and nerve. We are continuing to research how KCNQ channels balance sodium channels and make action potentials and other signals stronger and more reliable. In fact, KCNQ channels seem to be a powerful, natural anti-seizure mechanism. We are studying novel anti-seizure drugs that increase the opening of KCNQ channels. Our research spans from very basic studies at the molecular level, to in vivo work in animal models of seizures, to human studies of hereditary disorders and drug treatments.”
Dr. Orrin Devinsky
“Dr. Devinsky is professor of Neurology, Neurosurgery, and Psychiatry at NYU School of Medicine. He directs the NYU Comprehensive Epilepsy Center. He received his B.S. and M.S. from Yale University, M.D. from Harvard Medical School and interned at Harvard Beth Israel Hospital. He completed Neurology training at New York Hospital- Cornell Medical Center and his epilepsy fellowship at NIH. Dr. Devinsky’s epilepsy research interests include surgical therapy, new devices, medications to treat epilepsy, tuberous sclerosis, sudden death in epilepsy, quality-of-life, and cognitive and behavioral issues in epilepsy. He has published widely in epilepsy and behavioral neurology, with more than 350 articles and chapters and more than 20 books and monographs. He has chaired several committees for the American Epilepsy Society and has served as a board member. He is active in the American Academy of Neurology and the Epilepsy Foundation. He is Co-Editor of Reviews in Neurological Diseases, Epilepsy and Behavior, and Epilepsy.com, and serves as a reviewer for more than 30 journals.”
Dr. Peter De Jonghe
“The mission of the Neurogenetics group is to broaden our knowledge of the genetic groundwork of RES, IPN, HSP, SCA and CA. The complexity in the field of neurogenetics grows exponentially with increasing numbers of genes and ever more unpredictable associations between genotypes and phenotypes. The direct result of our work is the description of detailed genotype-phenotype correlations that in turn drive the design of better diagnostic strategies. Our observations often provide preliminary insights into the disease mechanisms and help to select specific mutations for additional functional studies that might contribute to the design of therapeutic strategies.
The research in our group is strongly driven by the clinical substrate of these disorders. It is at the level of the patients and their families that the scientific question arises and is in the end also answered, at least under the form of a genetic diagnosis and ultimately hopefully as a treatment. Through systematic patient sampling at the Antwerp University Hospital, other centers in Belgium and in fact through extensive international collaborations we established one of the largest collections of DNA samples and clinical data of IPN and RES patients and families in the world.
We conduct genetic studies in the lab using a wide range of molecular techniques. These include classical genetic approaches, such as linkage analysis and homozygosity mapping in nuclear families or patient cohorts. In addition to classic Sanger sequencing we now heavily rely on next-generation sequencing techniques, most notable whole-exome-sequencing e.g. in patient-parents trios and NGS panels in cohorts of patients. These technologies have now evolved into robust and price-efficient workhorses that allow experiments that were inconceivable a few years ago. This has revolutionized our way of thinking in molecular genetics.”
Dr. David Goldstein
The Institute for Genomic Medicine was established in January of 2015 under the direction of Dr. David B. Goldstein as a part of Columbia University’s Precision Medicine Initiative. Dr. Goldstein received his Ph.D. in Biological Sciences from Stanford University in 1994, and from 1999-2005 was Wolfson Professor of Genetics at University College London. In April 2007, he was appointed Honorary Professor, Institute of Neurology, University College London, UK.
Dr. Goldstein is the author of over 200 scholarly publications in the areas of population and medical genetics. His principal interests include human genetic diversity, the genetics of disease, and pharmacogenetics. He was elected a fellow of AAAS in 2013 and was a recipient of one of the first seven nationally awarded Royal Society / Wolfson research merit awards in the UK for his work in human population genetics. Also in 2013, Dr. Goldstein chaired the Gordon Research Conference in Human Genetics, and he is currently serving on the Advisory Council at the National Institute of Neurological Disorders and Stroke at NIH.
Dr. Ingrid Scheffer
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.
Dr. Sarah Weckhuysen
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, 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.