Understanding genetic variations in Usher disease
Official title: The role of non-coding variants in Usher disease
Funded at University of Washington · NIH-11077257 · Data updated 2026-11-12
This study is looking at how certain genetic changes in the USH2A gene might affect people with Usher syndrome, which causes hearing loss and vision problems, to help find better ways to diagnose and treat those who have it.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | April 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $230,277 |
| NIH project number | 5K08EY033789-03 |
| Project ID | NIH-11077257 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Usher syndrome, particularly those with unexplained genetic findings related to the USH2A gene.
✕Less likely to help
Patients with Usher syndrome who have clear genetic mutations identified or those without the condition may not benefit from this research.
What this research studies
This research investigates the role of non-coding genetic variants in Usher syndrome, a condition that causes hearing loss and progressive vision decline. By focusing on the USH2A gene, which is linked to the most common form of Usher syndrome, the research aims to identify additional genetic factors that contribute to the disease. The approach includes genome sequencing of patients to uncover variants that may not be detected through standard methods. This could lead to better diagnostic tools and treatment options for affected individuals.
Why it matters
Potential benefit: If successful, this research could improve the accuracy of diagnoses and lead to targeted therapies for patients with Usher syndrome.
How similar studies have gone: Previous research has shown promise in identifying genetic variants in similar conditions, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Mustafi, Debarshi — University of Washington
- Study coordinator: Mustafi, Debarshi
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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.