Epilepsy Genetics – From Family Studies to Polygenic Risk Scores
Date and time
Location
Montreal Neurological Institute – Hospital
3801 Rue University
Montréal, QC H3A 2B4
Canada
The Neuro is proud to announce the Neuro Epilepsy Lecture Series.
About this event
NEURO Epilepsy Lecture Series
The Centre of Excellence in Epilepsy at The Neuro (Montreal Neurological Institute-Hospital) is proud to announce the new Epilepsy Lecture Series. The series will include eight lectures per year covering hot topics in basic and clinical epilepsy research. Topics will be presented by distinguished leaders and rising stars in the field, with the goal of bridging basic and clinical perspectives. We are most pleased to welcome Dr. Samuel Berkovic as the series’ first speaker.
Speaker: Samuel F Berkovic, AM, MD, FAA, FRACP, FRS
Sam Berkovic is Laureate Professor in the Department of Medicine, University of Melbourne, and Director of the Epilepsy Research Centre at Austin Health. He is a clinical neurologist and clinical researcher with a special interest in establishing close research links with basic scientists. His group, together with molecular genetic collaborators in Adelaide and Germany, discovered the first gene for epilepsy in 1995 and subsequently have been involved the discovery of many of the known epilepsy genes. This has changed the conceptualization of the causes of epilepsy and is having a major impact on epilepsy research, and on strategies for diagnosis and development of new treatments. He currently is a leader in international consortia aiming at identifying rare and common variants in the common forms of epilepsy. He was elected a Fellow of the Royal Society in 2007, a Companion of the Order of Australia in 2014 and a Member of the National Academy of Medicine in 2017.
Talk Abstract - Whilst epilepsy may be a consequence of an acquired insult including trauma, stroke, and brain tumours, the genetic component to epilepsies has been greatly under-estimated. Considerable progress has recently occurred in the understanding of epilepsy genetics, both at a clinical genetic level and in the basic science of epilepsies. The clinical evidence for genetic components will be first briefly discussed including data from population studies, twin analyses and multiplex family studies. Initial molecular discoveries occurred via classical methods of linkage and gene identification. Recent large-scale hypothesis-free whole exome studies searching for rare variants and genome-wide association studies detecting common variants have been very rewarding. These discoveries have now impacted on clinical practice, especially in severe childhood epilepsies but increasingly so in adult patients. The “genetic background” of patients has long been posited as part of the reason that some patients have epilepsy, or perhaps why some have more severe epilepsy. This has been unmeasurable but now, with the development of polygenic risk scores, the “background” is now in the research foreground. The current and future impact of polygenic risk scores will be explored.