Understanding how certain genetic mutations affect eye health
Official title: Identifying mechanistic pathways underlying RPE pathogenesis in models of pattern dystrophy
Funded at Jackson Laboratory · NIH-11030319 · Data updated 2026-11-12
This study is looking at how certain genetic changes in the eye can lead to conditions like age-related macular degeneration, and by using mouse models, researchers hope to find new ways to prevent or slow down these eye diseases, which could help patients in the future.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | June 1, 2023 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $656,020 |
| NIH project number | 5R01EY034988-03 |
| Project ID | NIH-11030319 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with a family history of age-related macular degeneration or pattern dystrophy, particularly those showing early signs of these conditions.
✕Less likely to help
Patients with eye diseases unrelated to genetic mutations in the studied genes may not benefit from this research.
What this research studies
This research investigates the role of the retinal pigment epithelium (RPE) in eye health, particularly how genetic mutations can lead to diseases like age-related macular degeneration and pattern dystrophy. By studying mouse models that mimic human conditions, the research aims to identify the biological pathways affected by these mutations. The goal is to discover potential therapeutic targets that could prevent or delay the onset of these eye diseases before they cause irreversible damage. Patients may benefit from new treatments developed based on these findings.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that prevent or slow down vision loss in patients with genetic predispositions to eye diseases.
How similar studies have gone: Previous research has shown success in identifying genetic pathways related to eye diseases, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Naggert, Juergen K. — Jackson Laboratory
- Study coordinator: Naggert, Juergen K.
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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.