How noncoding DNA changes affect different brain cell types in autism
Functional mapping of noncoding regulatory variants in human neuronal subtypes3.
This project will find how changes in noncoding DNA affect brain cells linked to autism to help explain what causes the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11285340 on NIH RePORTER |
What this research studies
From my perspective, researchers are using genetic data from people with autism together with lab methods to see how noncoding DNA influences different kinds of brain cells. They will combine DNA sequencing, epigenetic maps, and 3C-based lab techniques that show which distant DNA regions physically contact genes in specific neuronal subtypes. The team plans to test candidate regulatory changes in human-derived neurons or cell models to observe how they alter gene activity. The aim is to link genetic risk signals to concrete cellular changes that could underlie autism.
Who could benefit from this research
Good fit: People with autism or family members who can provide genetic information or donate blood or skin samples for lab-derived cells would be the best candidates to contribute.
Not a fit: People seeking immediate new treatments or direct clinical benefits are unlikely to gain benefit from this basic, discovery-focused research.
Why it matters
Potential benefit: If successful, this work could reveal biological mechanisms behind autism that point to new targets for future treatments or better diagnostics.
How similar studies have performed: Other groups have started mapping regulatory DNA in brain tissue and found some disease-linked elements, but comprehensive functional mapping in specific neuronal subtypes is still relatively new and exploratory.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Yang, Nan — Icahn School of Medicine at Mount Sinai
- Study coordinator: Yang, Nan
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.