Precision genome-editing tools to understand single-letter DNA changes
Development of novel precision genome editing tools and strategies for functional investigation of genetic variants
Researchers are creating precise gene-editing tools to make and learn from single-letter DNA changes so people with genetic variants can get clearer diagnoses and more targeted care.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11090807 on NIH RePORTER |
What this research studies
This project builds new 'base editor' tools that can change single letters in DNA inside human cells. The team will use these editors to create cellular models carrying many genetic variants found in patients. By measuring how each change affects cell function, they aim to distinguish harmless variants from those likely to cause disease. That information could help people with unclear genetic test results get more definitive answers and guide future treatment decisions.
Who could benefit from this research
Good fit: People with rare or uncertain single-nucleotide variants (variants of uncertain significance) in genes linked to inherited conditions are the most relevant candidates for future applications of this work.
Not a fit: Patients whose conditions are not caused by single-letter DNA changes or whose genetic variants are already well characterized are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could turn many uncertain genetic test results into useful information that helps guide diagnosis and personalized treatment.
How similar studies have performed: Related base-editing methods have been successfully used in cells and animal models to install or correct single-letter DNA changes, but higher-throughput, more precise editors and systematic variant testing are still being developed.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Komor, Alexis C. — University of California, San Diego
- Study coordinator: Komor, Alexis C.
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.