Understanding a specific genetic cause of retinal degeneration
Official title: Characterization of DHDDS RP59 Knockin Models of Retinitis Pigmentosa
Funded at University of Alabama at Birmingham · NIH-11042720 · Data updated 2026-11-12
This study is looking at a specific type of retinitis pigmentosa called RP59, which is caused by changes in a gene, and researchers are using specially designed mice to learn more about how these changes affect vision, hoping to find new ways to help people with this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project start | March 15, 2021 |
| Project end | March 14, 2026 |
| Funding year | 2025 |
| Award (this year) | $40,774 |
| NIH project number | 5F31EY032764-05 |
| Project ID | NIH-11042720 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with retinitis pigmentosa, particularly those with mutations in the DHDDS gene.
✕Less likely to help
Patients with retinitis pigmentosa caused by mutations in genes other than DHDDS may not benefit from this specific research.
What this research studies
This research focuses on retinitis pigmentosa-59 (RP59), a genetic condition leading to retinal degeneration caused by mutations in the DHDDS gene. Researchers have created mouse models using advanced gene editing techniques to study how these mutations affect retinal health. By examining these models, the team aims to uncover the underlying mechanisms of RP59 and how it leads to vision loss, which could inform future treatments for patients with this condition.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for patients suffering from retinitis pigmentosa and related retinal diseases.
How similar studies have gone: Previous research using similar genetic modeling approaches has shown promise in understanding and potentially treating inherited retinal diseases.
Where this research is happening
-
University of Alabama at Birmingham
Birmingham, United States Active
Researchers
- Principal investigator: Nguyen, Mai N — University of Alabama at Birmingham
- Study coordinator: Nguyen, Mai N
Related research
Other NIH-funded projects on the same topics.
-
Inflammation in MERTK-related retinitis pigmentosa
This project aims to understand whether losing the MERTK gene causes retinal inflammation that leads to vision loss in people with MERTK-related retinitis pigmentosa.
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Enhancing cone survival in RP through targeted cell-specific CRISPR therapy
A patient-friendly look at a new approach to protect cone cells in retinitis pigmentosa using precise gene editing to support vision.
-
Oral, once-daily MC16 medicine for retinitis pigmentosa
A gene-mutation-agnostic pill (MC16) is being studied to help people with retinitis pigmentosa by addressing a common cellular problem in the eye.
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Role of IPM Proteoglycans in Retinal Health and Inherited Blindness
This grant studies how specific retinal extracellular matrix proteins (IMPG1 and IMPG2) affect eye health and contribute to retinitis pigmentosa, with potential implications for people who have or are at risk for inherited blindness.
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NAC Attack: a late-stage trial for preserving vision in RP patients
A large, multi-site study is testing whether taking a daily NAC pill can help people with retinitis pigmentosa keep more of their vision.
-
Non-invasive biomarker for mitochondria health in retinitis pigmentosa
Aims to test a new, non-invasive OCT-based biomarker to explain and predict how mitochondria function affects cone cells in people with retinitis pigmentosa.
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.