How an autism-linked gene (CHD8) affects dopamine brain circuits
Official title: IMPACT OF LOSS OF THE AUTISM RISK GENE CHD8 ON EXPRESSION, EPIGENETICS AND CELLULAR FUNCTIONING OF THE DOPAMINERGIC SYSTEM
Funded at Columbia University Health Sciences · NIH-11398259 · Data updated 2026-11-12
This work looks at how losing the autism-linked gene CHD8 changes dopamine brain cells and related behaviors that could matter for autistic children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 17, 2023 |
| Project end | February 29, 2028 |
| Funding year | 2026 |
| Award (this year) | $705,897 |
| NIH project number | 5R01MH130372-04 |
| Project ID | NIH-11398259 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with autism, especially those known to carry CHD8 mutations or who have dopamine-related movement or hyperactivity symptoms, would be most relevant for future clinical follow-up.
✕Less likely to help
Individuals whose autism is not linked to CHD8 or to dopamine-related biology are unlikely to receive direct benefit from these findings in the near term.
What this research studies
From my point of view as a patient or parent, the team uses mice that are missing one copy of CHD8 to see how that change affects brain cells that use dopamine and the circuits between midbrain and striatum. They will measure gene activity and chromatin accessibility with molecular tools such as ATAC-seq and other epigenetic assays to find which cell types and regulatory networks are altered. The researchers will also compare behavior and responses to drugs that change dopamine signaling, and look for differences between males and females. The aim is to connect gene-level changes to cell function and behavior so future treatments can be better targeted.
Why it matters
Potential benefit: If successful, this work could point to specific dopamine-related targets or pathways that lead to new treatments for some autism-related movement or activity symptoms.
How similar studies have gone: Previous lab and animal studies of CHD8 have shown effects on brain development and behavior, but therapies based on these findings have not yet been demonstrated in people.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Muhle, Rebecca Ann — Columbia University Health Sciences
- Study coordinator: Muhle, Rebecca Ann
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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.