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
['FUNDING_OTHER'] · UNIVERSITY OF CALIFORNIA, SAN DIEGO · NIH-10915423
This study is exploring new ways to safely edit genes to better understand certain genetic changes that we’re not sure about yet, which could help doctors choose the right treatments for patients and lead to new therapies for genetic diseases.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN DIEGO (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-10915423 on ClinicalTrials.gov |
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 methods that can cause unwanted changes in DNA, 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 role of specific genetic changes in disease mechanisms.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with genetic variants of uncertain significance that may impact their health or treatment options.
Not a fit: Patients without any identified genetic variants or those with well-characterized genetic conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and personalized treatment options for patients with genetic conditions.
How similar studies have performed: Other research has shown promising results using similar genome editing techniques, indicating potential for success in this novel approach.
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.