Investigating brain cell types and their role in autism spectrum disorder
Mapping human brain cell type-specific isoform usage in ASD
This study is looking at how different types of brain cells might be linked to autism spectrum disorder (ASD) by examining the unique RNA patterns in the brain, which could help us understand more about what causes ASD and how it affects people.
Quick facts
| Grant type | R21 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-10620755 on NIH RePORTER |
What this research studies
This research focuses on understanding how specific variations in brain cell types contribute to autism spectrum disorder (ASD). By using advanced long-read RNA sequencing technology, the team aims to map the diversity of RNA isoforms in the brain, particularly in regions associated with ASD. This approach allows for a detailed analysis of how these isoforms are expressed and regulated at the cellular level, providing insights into the genetic factors that may influence the development of ASD. The findings could help clarify the neurobiological mechanisms underlying this condition.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism spectrum disorder and their families.
Not a fit: Patients without a diagnosis of autism spectrum disorder or related psychiatric conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential new targets for treatment of autism spectrum disorder.
How similar studies have performed: While the approach of mapping isoform usage in brain disorders is innovative, similar studies have shown promise in understanding other psychiatric conditions, indicating potential for success.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Pinto, Dalila — Icahn School of Medicine at Mount Sinai
- Study coordinator: Pinto, Dalila
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.