NEURO Epilepsy Lecture Series: Epilepsy Genetics – From Family Studies to Polygenic Risk Scores
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.
To register: eventbrite
Link to livestreaming: https://vimeo.com/662630742 (Q&A function is not accessible here)
Speaker: Dr. Sam Berkovic, AM, MD, FAA, FRACP, FRS
Laureate Professor, Dept of Medicine, University of Melbourne
Director, Epilepsy Research Centre at Austin Health, Australia
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.
