Causes of vision and hearing loss in Usher syndrome type 2
Disease mechanism of Usher syndrome 2
Researchers are looking at how changes in USH2 genes harm the retina and hearing in people with Usher syndrome type 2.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project ID | NIH-11142660 on NIH RePORTER |
What this research studies
If I had Usher syndrome type 2, I'd want researchers to figure out how the USH2 proteins (usherin, ADGRV1, and whirlin) keep retinal cells healthy. The team will use mouse models and advanced lab techniques such as quantitative proteomics and phosphoproteomics to look for early protein and phosphorylation changes in the retina before cell loss occurs. They will map how the USH2 proteins interact at the periciliary membrane to find which molecular steps fail and could be targeted by treatments. This laboratory work at the University of Utah aims to point toward future therapies and clinical trials that might slow or prevent vision loss.
Who could benefit from this research
Good fit: The research is focused on people with Usher syndrome type 2, especially those with known USH2A, ADGRV1, or WHRN gene variants, who would be the population most likely helped by downstream therapies.
Not a fit: Patients whose vision loss is caused by unrelated genes or non-genetic eye diseases likely would not benefit directly from the findings.
Why it matters
Potential benefit: If successful, this work could reveal early molecular targets that lead to new therapies to slow or prevent vision loss in Usher syndrome type 2.
How similar studies have performed: Genetic links for USH2 genes are well established and gene-targeting approaches are being explored, but using detailed proteomics and phosphoproteomics to pinpoint early retinal defects is a relatively new and emerging approach.
Where this research is happening
Salt Lake City, United States
- Utah State Higher Education System--University of Utah — Salt Lake City, United States (Active)
Researchers
- Principal investigator: Yang, Jun — Utah State Higher Education System--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.