Scholarship Awards for the Meeting Synaptopathies in Neurodevelopmental Disorders: SHANK Mutations as a Window Into Synaptic Function

Scholarship Awards for the Meeting Synaptopathies in Neurodevelopmental Disorders: SHANK Mutations as a Window Into Synaptic Function Thursday, November 13, 2014 1:00 PM - Friday, November 14, 2014 6:00 PM (Eastern Time) Washington, DC Abstracts are due October 5, 2014. Join us at the "SHANK Symposium" in Washington, DC, a Satellite Event prior to the Society of Neuroscience 2014 Meeting Synaptic dysfunction represents a major cause of autism, intellectual disability, epilepsy, and schizophrenia.  These disorders frequently show deleterious mutations in genes encoding synaptic proteins, providing an important window into neurobiology. For example, FMRP, which when mutated leads to Fragile X syndrome (FXS), has a critical role in sequestering mRNA at the synapse and has led to novel, neurobiologically-driven clinical trials in FXS.  Recently, mutations in the post-synaptic density (PSD) SHANK proteins have been identified as contributing to neuropsychiatric disorders, including autism and schizophrenia, as well as intellectual disability and epilepsy. SHANK3 mutations appear to be as common as Rett syndrome and nearly as common as FXS, but have been studied far less extensively. The central role of SHANK proteins in developing and maintaining the PSD, and their critical role in linking signaling proteins at the synaptic surface with the underlying actin cytoskeleton, make them important targets for neurobiological analyses. The symp...
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