Understanding how genetic variants affect disease risk
Official title: A framework for interpreting global effects of genetic variants contributing to disease risk
Funded at University of California, San Diego · NIH-11174107 · Data updated 2026-11-12
This study is looking to better understand how certain genetic changes might affect your risk of disease, especially those changes that aren't well understood yet, so that patients can get clearer information and more personalized treatment options.
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 start | September 24, 2024 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $757,157 |
| NIH project number | 1R56HG013535-01 |
| Project ID | NIH-11174107 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include patients who have undergone genetic testing and have been identified with variants of unknown significance.
✕Less likely to help
Patients with well-characterized genetic mutations that already have established clinical implications may not benefit from this research.
What this research studies
This research aims to develop a framework for interpreting the effects of genetic variants on disease risk, particularly focusing on variants of unknown significance (VUS) that are commonly found in patients undergoing genetic testing. By combining computational methods with laboratory-based functional genomics, the study seeks to create high-throughput technologies that can efficiently characterize the impact of these genetic variants. This approach will help clarify the clinical significance of many genetic mutations, potentially leading to better patient outcomes and personalized treatment options.
Why it matters
Potential benefit: If successful, this research could significantly improve the understanding of genetic variants, leading to more accurate diagnoses and targeted therapies for patients with genetic conditions.
How similar studies have gone: Other research has shown promise in using high-throughput technologies for genetic variant characterization, indicating that this approach could lead to significant advancements in the field.
Where this research is happening
-
University of California, San Diego
La Jolla, United States Active
Researchers
- Principal investigator: Goren, Alon — University of California, San Diego
- Study coordinator: Goren, Alon
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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.