Investigating mitochondrial defects and genetic factors in age-related macular degeneration
Official title: Mitochondrial defects in the retinal pigment epithelium and the CFH risk allele for age-related macular degeneration
Funded at Doheny Eye Institute · NIH-10874602 · Data updated 2026-11-12
This study is looking at how problems in tiny parts of cells called mitochondria might lead to age-related macular degeneration (AMD), a common cause of vision loss in older people, especially focusing on a specific gene that could increase the risk for this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Doheny Eye Institute NIH-funded |
| Lab location | 1 site (Pasadena, UNITED STATES) |
| Project start | April 1, 2018 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $619,785 |
| NIH project number | 5R01EY028554-07 |
| Project ID | NIH-10874602 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are older adults who have been diagnosed with age-related macular degeneration, particularly those with the CFH high-risk genetic variant.
✕Less likely to help
Patients without age-related macular degeneration or those who do not carry the CFH risk allele may not benefit from this research.
What this research studies
This research focuses on understanding how defects in mitochondria within the retinal pigment epithelium contribute to age-related macular degeneration (AMD), a leading cause of blindness in older adults. The study examines a specific genetic variant in the complement factor H (CFH) gene that is associated with increased risk for AMD. By analyzing retinal cells from individuals with and without this genetic variant, researchers aim to uncover the mechanisms behind the disease and how mitochondrial dysfunction plays a role. The approach includes using advanced techniques like gene editing and stem cell-derived retinal cells to explore these connections.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential treatments for age-related macular degeneration, improving vision and quality of life for affected patients.
How similar studies have gone: Previous research has shown promising results in understanding mitochondrial dysfunction in AMD, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Doheny Eye Institute
Pasadena, United States Active
Researchers
- Principal investigator: Ferrington, Deborah Ann — Doheny Eye Institute
- Study coordinator: Ferrington, Deborah Ann
Related research
Other NIH-funded projects on the same topics.
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-
Transplanting stem-cell–derived retinal cells to treat dry AMD
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-
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-
New high-resolution OCT biomarkers to map early AMD changes
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-
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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.