Research Objective

Chromosomal microdeletion syndromes result in severe neuropsychiatric syndromes and lack therapy. This proposal will define critical genomic regions needed to generate new tools for functional rescue.

Impact

This work offers a new approach to restore gene function in 16p and 22q deletion syndromes. Success will create a model for treatment of >200 microdeletion syndromes with neuropsychiatric symptoms. Microdeletion syndromes have neuropsychiatric manifestations and few therapeutic options. Given the cognitive deficits and need for lifelong care, these conditions affect the resources and well-being of patient caregivers and providers. Our studies will generate novel therapeutic approaches using 16p and 22q deletion syndromes as exemplars. We will also use clinical outreach and advocacy panels to understand the patient experience and ensure patient-driven goals are part of the research process.