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.