BEGIN:VCALENDAR VERSION:2.0 PRODID:-//Talks.cam//talks.cam.ac.uk// X-WR-CALNAME:Talks.cam BEGIN:VEVENT SUMMARY:Developmental disorders of presynaptic vesicle cycling - Synaptota gmin-1 and beyond - Dr Kate Baker\, MRC Cognition and Brain Sciences Unit DTSTART:20221123T160000Z DTEND:20221123T170000Z UID:TALK183476@talks.cam.ac.uk CONTACT:Dr Dervila Glynn DESCRIPTION:*Theme: The Social Brain*\n\n*Abstract:* Post-diagnostic resea rch on rare genetic developmental disorders presents new opportunities (an d a few challenges) for discovery neuroscience and translation. In this ta lk\, Kate will describe and discuss neurodevelopmental phenotypes arising from rare\, high penetrance genomic variants which directly influence pre- synaptic vesicle cycling (SVC disorders). She will focus on Synaptotagmin- 1 Associated Neurodevelopmental Disorder (also known as Baker Gordon Syndr ome)\, first described in 2015 and now diagnosed in more than 50 children and young people worldwide. She will then present work-in-progress by her group on the neurodevelopmental spectrum of SVC disorders more broadly\, a nd discuss opportunities for collaborative neuroscience which can bridge t he gaps between genetic cause and complex neurological\, cognitive and men tal health outcomes.\n\n*Biography:* Kate is a Programme Leader Track at t he MRC Cognition and Brain Sciences Unit\, University of Cambridge\, where she leads the Genomic Disorders and Cognitive Development programme. She is also an Honorary Consultant in Clinical Genetics at Cambridge Universit y Hospital\, and an affiliate PI of the Academic Department of Medical Gen etics. Prior to this she completed her medical and research training at O xford\, UCL and Cambridge.\n\nRegister in advance for this meeting:\nhttps ://us02web.zoom.us/meeting/register/tZAscuCvrz8pHdVk7hmG9o0Rgd6wBw3qF9Y8 \ n\nAfter registering\, you will receive a confirmation email containing in formation about joining the meeting. LOCATION:Register on Zoom - link in abstract END:VEVENT END:VCALENDAR