Speakers: Genetic Epilepsy Family Conference 2020
Professor Sam Berkovic
Samuel F. Berkovic AM, MD, FAA, FRACP, FRS is Laureate Professor in the Department of Medicine, University of Melbourne, and Director of the Epilepsy Research Centre at Austin Health. His medical degree and doctorate were completed at the University of Melbourne before he undertook a 3-year Fellowship at McGill University. He returned to Melbourne in 1987 where he is a practicing neurologist and clinical researcher with a special interest in establishing close research links with basic scientists.
His early work was in neuroimaging where he was a pioneer in the application of MRI and single photon emission computed tomography in epilepsy, and especially epilepsy surgery. This work was rapidly applied to routine clinical use and remains so today. In the late 1980s he realized the potential for clinical genetic research in epilepsy, utilizing the NHMRC twin registry and working with large pedigrees. This led, together with molecular genetic collaborators in Adelaide and Germany, to the discovery of the first gene for epilepsy in 1995. Subsequently he, Ingrid Scheffer and their group have been involved the discovery of many of the known epilepsy genes. This has changed the conceptualisation of the causes of epilepsy, is having a major impact on directions of epilepsy research, and has directly translated to impacting daily clinical diagnosis and counselling, as well as refining treatment. He heads a large Program Grant integrating genetic, imaging and physiological studies in epilepsy. His current passions are completing the understanding of the complex genetic architecture of epilepsies and developing precision therapies for severe genetic epilepsies.
He was elected a Fellow of the Australian Academy of Science in 2005, Fellow of the Royal Society in 2007, Companion of the Order of Australia in 2014 and a member of the National Academy of Medicine in 2017. Together with Ingrid Scheffer, he was awarded the Prime Minister’s Prize for Science in 2014.
An Overview and History of Genetic Epilepsy
Professor Lynette Sadleir
Professor Lynette Sadleir joined the Department of Paediatrics and Child Health, University of Otago, Wellington in 1999 following an Epilepsy Fellowship at British Columbia’s Children’s Hospital. In her clinical role as a paediatric epileptologist, she diagnoses and manages children with epilepsy. She is a physician scientist with expertise in epilepsy phenotyping and epilepsy genetics. She is the Director of the Epilepsy Research Group at the University of Otago, Wellington. The Epilepsy Research Group is committed to improving the quality of life for individuals with epilepsy and their families. Her main research focus is identifying new and defining emerging epilepsy syndromes and finding their genetic causes. Professor Sadleir is a member of the International League Against Epilepsy Clinical Genetic Testing in the Epilepsies Task Force.
The power of the phenotype. What is it and why does it matter?
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.
New treatments for Genetic Epilepsies: The Good, the Bad and the Unproven.
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.
How Close are we to a Gene Therapy?
GETA: GET A Team, GET A Target, GET A Cure