Genomic clues to human brain specialization and autism
Official title: Genomic approaches to understand human neural specializations
Funded at Harvard University · NIH-11399119 · Data updated 2026-11-12
This project looks at human-specific genetic differences in brain development to understand why autism spectrum disorder can arise from neural vulnerabilities.
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 | 2026 |
| Award (this year) | $248,996 |
| NIH project number | 5R00MH136290-04 |
| Project ID | NIH-11399119 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with autism spectrum disorder or related neurodevelopmental conditions who contribute samples or data for future validation studies.
✕Less likely to help
Healthy individuals or those not involved in neural regulation studies may not directly benefit.
What this research studies
Researchers will map non-coding genetic variants that differentiate humans from other species and test how these variants affect gene activity in neural cells. They will use a human-chimpanzee tetraploid system to connect regulatory regions with nearby genes in neural progenitors and excitatory neurons. A second approach will search for constrained human-specific insertions and test their roles in neural regulation. The work aims to identify variants that may contribute to autism-related brain differences and potential targets for future study.
Why it matters
Potential benefit: Better understanding of genetic factors behind autism could guide future diagnostics or therapies by highlighting neural pathways involved in the condition.
How similar studies have gone: Prior work shows that regulatory variants can influence brain development and disease risk, but this human-specific focus is novel.
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.