ARMS2 gene changes and age-related macular degeneration
Official title: Role of ARMS2 mutations in age-related macular degeneration
Funded at Jackson Laboratory · NIH-11099960 · Data updated 2026-11-12
This project looks at whether a common ARMS2 gene change (A69S) causes AMD and how it damages the retina to help people with age-related macular degeneration.
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, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $728,017 |
| NIH project number | 5R01EY035397-02 |
| Project ID | NIH-11099960 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with age-related macular degeneration—especially those known to carry the ARMS2 A69S variant or with a strong family history—are the most relevant group for follow-up or future related studies.
✕Less likely to help
People without AMD or without the ARMS2 risk variant are unlikely to receive direct benefit from this basic animal-model research.
What this research studies
If you have AMD, you'll want to know that researchers will look for where the ARMS2 protein sits in retinal cells and how the common A69S change affects those cells in living animals. They will create mice that carry the human A69S variant and track whether these animals develop AMD-like signs in the retina. The team will also study how ARMS2 works with the nearby HTRA1 gene and other risk factors that together raise AMD risk. Although mice do not have a macula, these models reproduce many retinal degeneration features and can reveal mechanisms that matter for people.
Why it matters
Potential benefit: If successful, this work could clarify whether ARMS2 directly drives AMD and guide genetic testing and future targeted therapies.
How similar studies have gone: Genetic and mouse-model approaches have clarified mechanisms for other AMD-linked genes, but separating the effects of ARMS2 from nearby HTRA1 remains technically challenging and relatively novel.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Nishina, Patsy M — Jackson Laboratory
- Study coordinator: Nishina, Patsy M
Related research
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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.