• Research animal models for neurodevelopmental risk genes

  • Advance our understanding of how major Autism Spectrum Disorder (ASD) risk genes disrupt the connectivity of neural circuits that underlie relevant behaviors

    • 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

    • Regionally and temporally disrupting expression of the causal ASD gene and then observing the impact of these perturbations on etiologically-­relevant behaviors and circuit

  • Understanding how patient mutation in neurodevelopmental risk genes affect human development
    • Study neurons derived from a series of distinct human induced pluripotent stem cell (hiPSC) lines harboring disruptive SYNGAP1 variants

    • Discover cellular biomarkers that predict the severity of clinical phenotypes commonly observed in SYNGAP1 patients

  • 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

  • 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