Our research program is rapidly expanding towards exciting new horizons in basic and translational research.

The Rumbaugh laboratory is devoted to the understanding of how synapse and circuit mechanisms contribute to cognition and behavioral adaptions. In particular, we are interested in how major neurodevelopmental risk genes (i.e. genes that when mutated cause a defined neurodevelopmental disorder) disrupt synapse function and circuit connectivity. Our approach is to apply cutting-edge technology to the study of synapse and circuit function both in vitro and in vivo to determine how major risk genes disrupt behavior and adaptive functions associated with neurodevelopmental disorders.

  • Screening for drug candidates that regulate neurodevelopmental gene expression
  • Optimize procedures and workflows to determine the limit of scalability of neuron-­based (high throughput screening) HTS phenotypic assays so that they can easily support very large campaigns of >200K compounds.
  • Patient-derived neurons expressing SYNGAP1 variants will be tested for responses to drug candidates that raise SynGAP protein levels.
  • Understanding how patient mutations in neurodevelopmental risk genes impact brain development:
    • Cellular biomarkers can be used to guide ongoing drug discovery efforts for SYNGAP1-related brain disorders. Specifically, drug candidates that improve cellular phenotypes common to patient-derived neuronal models would be given the highest priority for further development.