Finding and understanding genetic changes that alter how genes are spliced
Novel methods to detect and interpret splicing quantitative trait loci - Renewal
['FUNDING_R01'] · UNIVERSITY OF CHICAGO · NIH-11250011
This project develops new lab and computer methods to find genetic differences that change how a person’s genes are pieced together into RNA, to help link those changes to human traits and disease.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CHICAGO (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-11250011 on ClinicalTrials.gov |
What this research studies
Researchers are building new laboratory tests that directly measure how RNA is processed before it is finished, not just the final RNA product. They will combine those assays with computational methods to compare how splicing varies between people and to pinpoint genetic variants that drive those differences. The team will look for both standard and unexpected (non-canonical) splicing events, including cases that create faulty RNAs removed by the cell. Results will be used to map which genetic changes may contribute to human traits or disease risk.
Who could benefit from this research
Good fit: People willing to donate DNA and tissue or blood samples for genomic and RNA analyses, especially those with genetic conditions or unexplained inherited traits, would be ideal candidates to contribute data or samples.
Not a fit: Patients seeking immediate treatment or those whose conditions are not driven by genetic or splicing-related mechanisms are unlikely to receive direct clinical benefit from this basic research.
Why it matters
Potential benefit: If successful, this work could help explain how genetic differences cause disease and point to new diagnostic markers or drug targets.
How similar studies have performed: Prior studies have linked splicing variation to human traits and disease, but these proposed assays aim to reveal previously hidden splicing processes and are relatively novel.
Where this research is happening
CHICAGO, UNITED STATES
- UNIVERSITY OF CHICAGO — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: STALEY, JONATHAN P — UNIVERSITY OF CHICAGO
- Study coordinator: STALEY, JONATHAN P
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.