Synaptic neurodevelopmental disorders: genes, cells, circuits, cognition

Synaptic neurodevelopmental disorders: genes, cells, circuits, cognition
Theme: Synapses and plasticity

Sunday 23rd April, 13:00 – 14:40

Severe neurodevelopmental disorders (NDD) affect at least 1% of the global population, and are associated with lifelong impairments of cognition, adaptive function and mental health.  Until recently, the aetiology of NDD was unknown in the majority of cases, limiting our ability to elucidate the diverse multi-level mechanisms contributing to symptoms, and constraining clinical management to supportive therapies. Now, thanks to the advent of Next Generation Sequencing technologies, it is possible to identify a specific genetic cause in more than 50% of individuals with severe NDD.  The catalogue of rare and ultra-rare genetic diagnoses associated with NDD now stands at over 1500 different conditions. Genomic diagnostics are readily available within the NHS, meaning that a clear cause of NDD is being identified in an increasingly large number of individuals, at ever-earlier ages. This symposium will illustrate the host of new opportunities for clinically-relevant, interdisciplinary, developmental neuroscience research arising from genetic diagnosis in NDD.  Each talk will focus on a single gene disorder impacting on synaptic function, illustrating how the gaps between genetic diagnosis and clinical impairments can be closed via molecular, cellular, systems and cognitive neuroscience.  The symposium will compare and contrast disorders arising from abnormal presynaptic function, abnormal postsynaptic function, and abnormal epigenetic regulation of synaptic development. Collectively, these studies provide new understanding of the dynamic constraints placed on cognitive development via dysregulation of synaptic plasticity. Our symposium objectives are to showcase the work of trailblazing early-career and mid-career researchers, foster new collaborations across disciplines, and draw more neuroscientists from diverse research backgrounds toward this emerging field at the discovery-translational boundary.

  • Kate Baker, MRC Cognition and Brain Sciences Unit, University of Cambridge (non-speaking co-chair)
  • Asma Soltani, Department of Physiology, Neuroscience and Development, University of Cambridge, UK: Inhibitory interneurons and network development in MECP2 deficiency (co-chair)
  • Sarah Gordon, Florey Institute of Neuroscience and Mental Health, UK: Unravelling the pathogenicity of SYT1-associated neurodevelopmental disorder
  • Cezar Tigaret, Neuroscience & Mental Health Research Institute, Cardiff University, UK: CACNA1C, synaptic plasticity and contextual learning in psychiatric disorders
  • Susana Ribeiro dos Louros, University of Edinburgh, UK: Excessive proteostasis contributes to pathology in Fragile X Syndrome

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