Boosting CHD2 levels to help CHD2-related autism and epilepsy
Bidirectional control of Chd2 haploinsufficiency
Researchers are working to increase CHD2 protein in brain cells to see whether that could help people with CHD2-related autism, intellectual disability, or epilepsy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project ID | NIH-11263721 on NIH RePORTER |
What this research studies
You would be learning about research that changes CHD2 levels in lab-grown human neurons and in mice engineered to carry CHD2 mutations. Scientists will use genetic tools, drugs, and brain recordings to raise or lower CHD2 during development or in adulthood and then measure effects on gene activity, nerve cell function, and behavior. The team aims to find whether increasing CHD2 can reverse disease-linked changes and point toward a drug-based therapy. Successful findings would support moving toward clinical trials for people with CHD2 haploinsufficiency.
Who could benefit from this research
Good fit: Ideal candidates would be individuals with a confirmed CHD2 loss-of-function mutation or diagnosis of CHD2 haploinsufficiency, often presenting with autism, intellectual disability, and/or epilepsy.
Not a fit: People whose autism or epilepsy is not caused by CHD2 mutations are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could lead to a drug approach that raises CHD2 and improves seizures, learning, or autism-related differences in people with CHD2 haploinsufficiency.
How similar studies have performed: Prior mouse studies from this group and others have linked CHD2 loss to brain and behavioral problems, but using drugs to raise CHD2 as a therapy is a novel, early-stage approach.
Where this research is happening
Irvine, United States
- University of California-Irvine — Irvine, United States (Active)
Researchers
- Principal investigator: Hunt, Robert F — University of California-Irvine
- Study coordinator: Hunt, Robert F
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.