Finding gene splicing errors that can lead to conditions like autism
Discovering Splicing Defects in Human Genes
This project looks for tiny gene changes that disrupt how cells splice genetic messages, which could help people with genetic forms of autism and other conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brown University NIH-funded |
| Lab location | 1 site (Providence, United States) |
| Project ID | NIH-11112436 on NIH RePORTER |
What this research studies
This project analyzes tens of thousands of human gene variants from large databases (myCode, ClinVar, UK Biobank, All of Us, GTEx) to find mutations that change RNA splicing. Researchers will combine computer predictions with laboratory tests to identify exons and introns that are unusually sensitive to splicing problems, including single-base changes that activate hidden (pseudo) exons. The team aims to map ‘hotspot’ exons that are more likely to cause disease when mutated and to catalog both loss- and gain-of-splicing changes. Results are intended to improve how genetic test results are interpreted and to highlight targets for therapies such as antisense oligonucleotides.
Who could benefit from this research
Good fit: People with autism or other conditions who have genetic testing showing uncertain or suspicious variants near exons or introns would be the most relevant for this work.
Not a fit: Patients whose conditions have no suspected genetic cause or whose genetic tests show no variants near splicing regions are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnoses and point to new targets for treatments that fix splicing errors.
How similar studies have performed: Previous pilot screens of tens of thousands of variants have shown that a small but meaningful fraction of exonic changes affect splicing, and some antisense therapies have helped splicing disorders, but large-scale exon-hotspot mapping is relatively new.
Where this research is happening
Providence, United States
- Brown University — Providence, United States (Active)
Researchers
- Principal investigator: Fairbrother, William G — Brown University
- Study coordinator: Fairbrother, William G
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.