Developmental disorders of presynaptic vesicle cycling - Synaptotagmin-1 and beyond
Schedule
Wednesday, November 23, 2022
15:00 UTC
Kate Baker
Dr
MRC Cognition and Brain Sciences Unit, University of Cambridge
Host: Cambridge Neuro
Recording
Open recording
Event Information
Recording
Available
Host
Cambridge Neuro
Duration
70 minutes
Abstract
Post-diagnostic research on rare genetic developmental disorders presents new opportunities (and a few challenges) for discovery neuroscience and translation. In this talk, 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 Syndrome), 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, and discuss opportunities for collaborative neuroscience which can bridge the gaps between genetic cause and complex neurological, cognitive and mental health outcomes.
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