Speakers: Genetic Epilepsy Family Conference 2019
Professor Daniel Lowenstein
Professor Daniel H. Lowenstein, M.D., is the Robert B. and Ellinor Aird Professor of Neurology and Executive Vice Chancellor and Provost at the University of California, San Francisco (UCSF), Director of the UCSF Epilepsy Center, and Director of Physician-Scientist and Education Training Programs for the UCSF School of Medicine. He is known internationally for his contributions in the field of epilepsy including laboratory-based and clinical research, the clinical care of patients with epilepsy, and advocacy for the needs of patients and family members living with epilepsy. He has had an active role in medical education, has held many leadership roles at both UCSF and Harvard Medical School, was the originator of the “Academy of Medical Educators” concept, and is the recipient of numerous teaching awards both at UCSF and nationally. He has served as Dean for Medical Education at Harvard Medical School, and has been president of the American Epilepsy Society (2003-4).
Professor Lowenstein’s profile page from University of California, San Francisco
Professor Ingrid Scheffer
Laureate Professor Ingrid Scheffer has pioneered and led the fields of epilepsy genetics and epilepsy classification over 25 years in her work as a paediatric neurologist and epileptologist at the University of Melbourne, Austin Health and the Royal Children’s Hospital. With Professor Samuel Berkovic and molecular geneticists, she identified the first gene for epilepsy and subsequently discovered many more. Professor Scheffer was the first to describe multiple new epilepsy syndromes and refined our understanding of others. Now she is building on her work defining the genetic basis of epilepsy to develop precision treatments for these serious diseases.
She recently led the first major reclassification of the epilepsies in thirty years for the International League Against Epilepsy (ILAE). She has published more than 400 peer-reviewed papers, and in 2017 she co-authored the first study to show that medicinal cannabis is effective in epilepsy, published in the New England Journal of Medicine. She also leads research into the genetics of speech disorders, autism spectrum disorders, cortical malformations and intellectual disability.
Professor Scheffer has received a range of awards including the 2007 American Epilepsy Society Clinical Research Recognition Award, 2009 Royal Australasian College of Physicians Eric Susman Prize, ILAE Ambassador for Epilepsy Award, 2013 Australian Neuroscience Medallion, and was the L’Oréal-UNESCO Women in Science Laureate for the Asia-Pacific region for 2012. In 2014, she was elected as a Fellow of the Australian Academy of Science and also elected as the inaugural Vice-President and Foundation Fellow of the Australian Academy of Health and Medical Sciences. Professor Scheffer sits on the National Health and Medical Research Council and is Director of Paediatrics at Austin Health. In 2014, she received the Prime Minister’s Prize for Science and was made an Officer of the Order of Australia “for distinguished service to medicine as a clinician, academic and mentor”.
Professor Scheffer’s website has more information on her research and achievements.
Professor Steven Petrou
Professor Steven Petrou is Director of the Florey Institute for Neuroscience and Mental Health and Head of the Florey’s Division of Epilepsy. He heads the Laboratory of Ion Channels and Human Disease, a multidisciplinary team of researchers with a focus on revealing fundamental mechanisms of disease genesis in the central nervous system. Current major areas of investigation centre on the development and characterisation of genetically engineered mice models for the study of human familial epilepsy. He works closely with industry and has several patents for his discoveries. In addition to his many roles within the Florey Institutes and the University of Melbourne, he serves on the editorial board of the Journal Neurobiology of Disease and the Investigators Workshop Committee for the American Epilepsy Society.
Some of Professor Petrou’s research papers can be found here.
Professor Annapurna Poduri
Professor Annapurna Poduri is an Associate Professor of Neurology at Harvard Medical School and Associate in Neurology at the Epilepsy Genetic Program, Boston Children’s Hospital. Dr. Poduri received her BA in Biology from Harvard University, her MD from the University of Pennsylvania School of Medicine, and her MPH from the Harvard School of Public Health. She completed her pediatric training at Boston Children’s Hospital, child neurology residency at the Children’s Hospital of Philadelphia, and returned to Boston for a fellowship in clinical neurophysiology at Boston Children’s Hospital. She went on to pursue training in neurogenetics in the clinic and through a post-doctoral fellowship with Dr. Christopher Walsh. Dr. Poduri began her independent research program at Boston Children’s Hospital in 2013 focusing on the genetics of epilepsy. She has been awarded the prestigious Dreifuss-Penry Epilepsy Award from the American Academy of Neurology and the Derek Denny-Brown Young Neurological Scholar Award from the American Neurological Association in 2015.
Professor Poduri’s profile page from Boston Children’s Hospital
Dr Katherine Howell
Dr Katherine Howell is a paediatric neurologist and epileptologist at The Royal Children’s Hospital, Melbourne, and a Clinician-Scientist Fellow at the Murdoch Children’s Research Institute. Her clinical and research work focuses on severe, early-life epilepsies.”
Dr Howell’s work on SCN2A-related disorders has been important in describing their clinical features, determining a number of different subgroups (phenotypes) of SCN2A-associated epilepsies, and understanding the relationship between the SCN2A phenotype and the impact of the mutation on brain cell function.
In 2019, she will be the lead investigator on a the International Natural History Study of SCN2A related disorders. This study will provide critical information for future treatment trials.
Dr Howell was the first author on a paper describing a series of children with SCN2A published in Neurology.
Dr Emma Palmer
Dr Palmer is a Clinical Geneticist working at the State-wide Genetics of Learning Disability Service, diagnosing the cause of inherited intellectual disability and counselling families. She is a Conjoint Lecturer and PhD student at the University of New South Wales investigating the application of genomics for severe epilepsy and intellectual disability. She is a Visiting Scientist in the Translational Genomics Group at the Garvan Institute.
In additional to a busy clinical load and two small children, Dr Palmer has growing research expertise with multiple international and national research conference presentations, invited presentations and first-author publications and reviews.
Sara James and Panel: