Speakers: Genetic Epilepsy Family Conference 2021
Dr Emma Palmer
Dr (Elizabeth) Emma Palmer is a Clinical Geneticist at Sydney Children’s Hospitals Network (SCHN) and university lecturer at the University of New South Wales, in Sydney Australia. She is passionate about improving the patient journey for all with rare genetic conditions and their families. Her work aims to improve the recognition of the possibility of genetic conditions by improving clinician education about rare diseases, maximising the diagnostic yield of genetic tests and optimising patient care by linking families to best practice guidelines, treatments and supports. Dr Palmer has over 50 peer reviewed journal articles, including those describing 9 new genetic conditions.
Dr Palmer is also a chief investigator on many national and international rare disease programs including the newly launched national undiagnosed disease program UDN-Aus, the Australian Functional Genomic Network and the Diagnostic Working Group of the Undiagnosed Disease Network International.
CoGENEs: working together with families and patients with genetic epilepsy to inform, empower and support
Professor Matthew Might
Since 2017, Matt Might has served as Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB). At UAB, Matt is the Hugh Kaul Endowed Chair of Precision Medicine, a Professor of Internal Medicine and a Professor of Computer Science.
At UAB, Dr. Might’s NIH and philanthropically funded research focuses on precision prevention, diagnosis and therapeutics across rare disease, cancer and common/chronic conditions. A principal theme in his research is the use of computer and data science to enhance clinical and academic medicine. At UAB, Dr. Might’s NIH and philanthropically funded research focuses on precision prevention, diagnosis and therapeutics across rare disease, cancer and common/chronic conditions. A principal theme in his research is the use of computer and data science to enhance clinical and academic medicine.
The algorithm for precision medicine
Professor Steve Wilton
Professor Steve Wilton is the Director of the Perron Institute, Foundation Chair of Molecular Therapy at Murdoch University and Director of Murdoch University’s Centre for Molecular Medicine and Innovative Therapeutics (CMMIT). In collaboration with Professor Sue Fletcher, Professor Wilton has pioneered the use of antisense oligonucleotides (AOs) to overcome some of the most common dystrophin gene defects causing Duchenne muscular dystrophy (DMD).
Over a research journey spanning more than two decades, the Molecular Therapy Laboratory took the idea of using AOs to treat DMD from the laboratory to clinical application, through a partnership with the US pharmaceutical company, Sarepta Therapeutics (Cambridge, Ma). Three drugs for DMD have now been approved by the US Food and Drug Administration (FDA) and are relevant to nearly 30% of the DMD population. With co-leader Dr May Aung-Htut at Murdoch University, the Molecular Therapy laboratory is exploring therapeutic interventions for more than 50 different inherited and acquired conditions affecting human health. Professor Wilton has received multiple awards for his research on DMD and other diseases, including the Eureka Prize for Medical Research Translation, the Western Australian Innovator of the Year award and Officer of the Order of Australia.
Therapeutic alternative splicing: Gene patch strategies to treat inherited and acquired diseases
Prof Jozef Gecz
Professor Jozef Gecz is Channel 7 Children’s Research Foundation Honorary Chair for the Prevention of Childhood Disability and Australian NH&MRC Senior Principal Research Fellow at the University of Adelaide.
He is the founding head of the Neurogenetics Research Program located at the Medical School, the University of Adelaide. The broad research aim of his group is to further understanding of brain function through the identification and characterisation of genes with naturally occurring mutations in patients with intellectual disability, autism, some, primarily monogenic, forms of epilepsy and cerebral palsy. His team discovered or contributed to the discovery of more than 250 different disease genes (e.g. AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, GOSR2, UPF3B, HCFC1, IQSEC2, RNF113A, STAG2, USP9X, THOC2, GPKOW, RLIM or ZSWIM6). Many of these genes pointed to new and unexpected biological pathways essential for normal brain development and function (e.g. non-sense mediated mRNA decay, NMD or nucleo-cytoplasmic mRNA export). The current focus of his research is in the functional interpretation of genetic variation, coding and non-coding, identified with next generation genomic technologies, using various cell and molecular biology tools, including patient cell (including stem cell) and animal models.
Treasure your exceptions; PCDH19 clustering epilepsy
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.
Panel discussion
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.
Panel discussion
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. an honorary senior fellow at the University of Melbourne and an honorary senior research fellow at the Florey Institute of Neuroscience and Mental Health. Her clinical and research work focuses on severe, early-life epilepsies. Her research is supported by the National Health and Medical Research Council. 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.
Dr Howell is the lead investigator on the International Natural History Study of SCN2A related disorders. This study will provide critical information for future treatment trials.
Panel discussion
GETA: GET A Team, GET A Target, GET A Cure
