Defining the source of dysfunction in monogenic Intellectual Disability Syndrome neurons
Grant Award Details
Grant Type:
Grant Number:
DISC0-14519
Investigator(s):
Disease Focus:
Human Stem Cell Use:
Award Value:
$1,500,337
Status:
Active
Grant Application Details
Application Title:
Defining the source of dysfunction in monogenic Intellectual Disability Syndrome neurons
Public Abstract:
Research Objective
This study will use pluripotent stem cells derived from patients to determine why Intellectual Disabilities caused by mutations in chromatin regulatory proteins leads to neuronal defects.
Impact
Our study of intellectual disability syndromes will determine links between mutations and neuronal dysfunction
Major Proposed Activities
This study will use pluripotent stem cells derived from patients to determine why Intellectual Disabilities caused by mutations in chromatin regulatory proteins leads to neuronal defects.
Impact
Our study of intellectual disability syndromes will determine links between mutations and neuronal dysfunction
Major Proposed Activities
- Our study of intellectual disability syndromes will determine links between mutations and neuronal dysfunction
- Determine which ID Syndromes show neuronal senescence in vitro
- Identify the best culture method to recapitulate findings from ID Syndrome brain data
- Discover the primary trigger of neuronal stress and P53 activation
- Perform loss of function study to identify primary response to defective chromatin regulation
- Elucidate a potential role for neuronal activity in DNA damage and stress response in ID Syndrome neurons
Statement of Benefit to California:
The project described here will bring great benefit from families suffering with Rett Syndrome. Our novel small molecules will be translated into drugs that have been shown to ameliorate symptoms of Rett Syndrome in neurons through modeling via human induced pluripotent stem cells. Rett Syndrome strikes 1:10000 live female births, so in State like California, this means thousands of families are suffering right now, with no treatment options available.