Understanding the impact of genetic variants on health
Official title: Advancing the implementation of variant-level functional data into clinical databases and clinical practice
Funded at University of Washington · NIH-11063127 · Data updated 2026-11-12
This study is working to better understand certain genetic changes that doctors find confusing, especially for people from diverse backgrounds, so that everyone can get the best care based on their genes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | June 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $715,577 |
| NIH project number | 5R01HG013025-03 |
| Project ID | NIH-11063127 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with genetic variants classified as uncertain significance, particularly those from diverse and historically underrepresented populations.
✕Less likely to help
Patients without any genetic variants or those whose variants are already well understood may not benefit from this research.
What this research studies
This research focuses on improving how genetic variants are interpreted in clinical settings, particularly those classified as variants of uncertain significance (VUS). By utilizing multiplexed assays of variant effect (MAVEs), the study aims to provide functional data that can clarify the relationship between these genetic variants and diseases. This approach is especially important for individuals from historically underrepresented populations in research, ensuring equitable access to genomic medicine. The ultimate goal is to enhance clinical decision-making and patient care through better understanding of genetic information.
Why it matters
Potential benefit: If successful, this research could lead to more accurate interpretations of genetic tests, improving treatment options for patients with genetic variants.
How similar studies have gone: Previous research using similar approaches has shown success in resolving uncertain genetic variants, indicating a promising avenue for further exploration.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Starita, Lea — University of Washington
- Study coordinator: Starita, Lea
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.