Multi-gene modulation to rescue CNS-associated microdeletion syndromes
Grant Award Details
Grant Type:
Grant Number:
DISC4-16345
Investigator(s):
Disease Focus:
Human Stem Cell Use:
Award Value:
$5,505,959
Status:
Pre-Active
Grant Application Details
Application Title:
Multi-gene modulation to rescue CNS-associated microdeletion syndromes
Public Abstract:
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.
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.
Statement of Benefit to California:
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.
