Understanding the causes of Usher syndrome 2
Official title: Disease mechanism of Usher syndrome 2
Funded at University of Utah · NIH-10910130 · Data updated 2026-11-12
This study is looking into how certain proteins are involved in Usher syndrome type 2, which causes both vision and hearing loss, to help find better treatments for people living with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project start | September 1, 2023 |
| Project end | July 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $469,144 |
| NIH project number | 5R01EY034524-02 |
| Project ID | NIH-10910130 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Usher syndrome type 2, particularly those with mutations in the USH2A gene.
✕Less likely to help
Patients with other forms of Usher syndrome or those without genetic mutations related to USH2 may not benefit from this research.
What this research studies
This research investigates the underlying mechanisms of Usher syndrome type 2, a condition that combines retinitis pigmentosa and hearing loss, leading to deaf-blindness. The project focuses on key proteins involved in the disease, specifically the roles of usherin, ADGRV1, and whirlin in retinal cells. By studying these proteins and their interactions, the research aims to uncover the molecular defects that contribute to the disease, which could pave the way for targeted therapies. Patients with Usher syndrome may benefit from insights gained through this research, as it seeks to address the current lack of effective treatments.
Why it matters
Potential benefit: If successful, this research could lead to the development of targeted therapies for patients with Usher syndrome type 2.
How similar studies have gone: Previous research has shown promise in understanding the molecular mechanisms of similar inherited retinal diseases, suggesting potential for success in this area as well.
Where this research is happening
-
University of Utah
Salt Lake City, United States Active
Researchers
- Principal investigator: Yang, Jun — University of Utah
- Study coordinator: Yang, Jun
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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.