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Research animal models for neurodevelopmental risk genes
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Advance our understanding of how major Autism Spectrum Disorder (ASD) risk genes disrupt the connectivity of neural circuits that underlie relevant behaviors
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Recording the flow of information throughout the major areas of the somato-motor system (Neuropixels and 2p) in a mouse model for a monogenic form of ASD
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Regionally and temporally disrupting expression of the causal ASD gene and then observing the impact of these perturbations on etiologically-relevant behaviors and circuit
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- Understanding how patient mutation in neurodevelopmental risk genes affect human development
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Study neurons derived from a series of distinct human induced pluripotent stem cell (hiPSC) lines harboring disruptive SYNGAP1 variants
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Discover cellular biomarkers that predict the severity of clinical phenotypes commonly observed in SYNGAP1 patients
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Optimize a panel of measures that predict the extent of developmental brain damage in an emerging mouse model of ID and then use this panel to test the efficacy of FDA-approved RAS/ERK inhibitors
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Investigate the role of SynGAP splice variants
- Study of SynGAP-α1 encoding the C-terminal PDZ binding motif (PBM) and its role in gating NMDA receptor function