Creating new tools to understand genetic variants that are unclear in their significance
Development and Application of New Genome Editing Tools for the Functional Investigation of Genetic Variants of Uncertain Significance
This study is exploring new ways to understand unclear genetic changes that might affect health, which could help doctors choose better treatments for patients and speed up the development of new therapies for genetic diseases.
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-11169457 on NIH RePORTER |
What this research studies
This research focuses on developing innovative genome editing tools to investigate genetic variants that are currently classified as uncertain in their significance. By utilizing advanced techniques like base editing, which avoids traditional double-stranded DNA breaks, the project aims to enhance our understanding of how these genetic variants affect human health. This could lead to improved patient selection for existing therapies and accelerate the creation of new treatments for genetic diseases. The approach is designed to provide clearer insights into the functional roles of these variants, ultimately benefiting precision medicine.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with genetic variants classified as variants of uncertain significance (VUS) who may benefit from more precise treatment options.
Not a fit: Patients with well-characterized genetic variants or those without any genetic variants may not receive direct benefits from this research.
Why it matters
Potential benefit: If successful, this research could significantly improve the interpretation of genetic variants, leading to better-targeted therapies for patients with genetic conditions.
How similar studies have performed: Other research has shown promising results using similar genome editing approaches, particularly with CRISPR technology, indicating a potential for success in this novel application.
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.