Investigating how different gene forms affect the brain in autism.
Mapping cell type specific isoform diversity in the human brain: dissecting mechanisms of alternative splicing in ASD
This study is looking at how different gene versions in the brain might be linked to autism, using advanced technology to compare brain samples from people with and without autism, which could help us understand more about how autism develops.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Los Angeles NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project ID | NIH-10903323 on NIH RePORTER |
What this research studies
This research focuses on understanding the diversity of gene isoforms in the human brain, particularly in relation to autism spectrum disorder (ASD). By utilizing advanced long-read sequencing technology, the study aims to analyze brain samples from individuals with and without ASD to uncover how alternative splicing affects brain function. The approach involves examining single nuclei from prefrontal cortex samples to identify the specific isoforms that may contribute to neurodevelopmental differences. This could lead to a better understanding of the molecular mechanisms underlying ASD.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with autism spectrum disorder as well as neurotypical individuals for comparison.
Not a fit: Patients with other neurodevelopmental disorders unrelated to autism may not receive direct benefits from this research.
Why it matters
Potential benefit: If successful, this research could provide insights that lead to improved diagnostic and therapeutic strategies for autism spectrum disorder.
How similar studies have performed: Previous studies have shown promising results in understanding neurodevelopmental disorders through RNA sequencing, suggesting that this approach could yield valuable insights.
Where this research is happening
Los Angeles, United States
- University of California Los Angeles — Los Angeles, United States (Active)
Researchers
- Principal investigator: Margolis, Michael — University of California Los Angeles
- Study coordinator: Margolis, Michael
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.