Understanding the causes of Usher syndrome 2
Disease mechanism of Usher syndrome 2
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 ID | NIH-10910130 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Usher syndrome type 2, particularly those with mutations in the USH2A gene.
Not a fit: Patients with other forms of Usher syndrome or those without genetic mutations related to USH2 may not benefit from this research.
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 performed: 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
Salt Lake City, United States
- University of Utah — Salt Lake City, United States (Active)
Researchers
- Principal investigator: Yang, Jun — University of Utah
- Study coordinator: Yang, Jun
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.