Human-specific DNA changes that shape brain cells linked to autism
Official title: Genomic approaches to understand human neural specializations
Funded at Harvard University · NIH-11388153 · Data updated 2026-11-12
Researchers are looking at human-specific non-coding DNA changes that alter how brain cells develop to help explain autism.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard University NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project start | April 18, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $248,991 |
| NIH project number | 4R00MH136290-03 |
| Project ID | NIH-11388153 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with autism spectrum disorder or families with suspected genetic forms of autism may be most relevant, especially if they can provide DNA samples or medical information.
✕Less likely to help
People seeking immediate symptom relief or current treatments are unlikely to get direct benefit because this is basic, lab-focused research.
What this research studies
This project looks for human-specific parts of DNA that control brain development and that may be changed in autism. The team will compare human and chimp DNA activity in lab-grown neural progenitor cells and excitatory neurons, and use a human-chimp tetraploid cell system to link regulatory regions to nearby genes. They will prioritize likely important non-coding variants and then test many variants at once to see which change gene activity, using gene-editing and high-throughput lab tests. The work is laboratory-based and aims to pinpoint DNA changes that could later guide diagnosis or new treatments.
Why it matters
Potential benefit: If successful, this could reveal specific DNA changes that explain some cases of autism and point to targets for future tests or therapies.
How similar studies have gone: Prior comparative genomics and functional screening work has found human-specific regulatory elements tied to brain development, but applying those findings to autism treatment remains in early stages.
Where this research is happening
-
Harvard University
Cambridge, United States Active
Researchers
- Principal investigator: Song, Janet — Harvard University
- Study coordinator: Song, Janet
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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.