University of Cambridge > > Cambridge Neuroscience Interdisciplinary Seminars > Developmental disorders of presynaptic vesicle cycling - Synaptotagmin-1 and beyond

Developmental disorders of presynaptic vesicle cycling - Synaptotagmin-1 and beyond

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If you have a question about this talk, please contact Dr Dervila Glynn.

Theme: The Social Brain

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.

Biography: Kate is a Programme Leader Track at the 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 University Hospital, and an affiliate PI of the Academic Department of Medical Genetics. Prior to this she completed her medical and research training at Oxford, UCL and Cambridge.

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