Understanding how alternative splicing affects retinal development and degeneration
Official title: Investigating the Alternative Splicing Landscape of Human Retinal Development and Degeneration
Funded at Johns Hopkins University · NIH-11061236 · Data updated 2026-11-12
This study is looking at how changes in gene splicing affect the health of retinal cells, which are important for vision, and it aims to help people with retinal diseases like retinitis pigmentosa by using advanced techniques to better understand these changes.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | April 1, 2024 |
| Project end | March 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $110,407 |
| NIH project number | 5K99EY035737-02 |
| Project ID | NIH-11061236 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with retinitis pigmentosa or other inherited retinal diseases.
✕Less likely to help
Patients with retinal conditions unrelated to alternative splicing or those with acquired vision loss may not benefit from this research.
What this research studies
This research investigates the role of alternative splicing in the development and degeneration of retinal cells, which are crucial for vision. By utilizing advanced RNA sequencing technology and CRISPR gene editing, the study aims to uncover how mis-splicing of genes contributes to retinal diseases like retinitis pigmentosa. The research will involve creating 3D human stem cell organoids to model retinal conditions and analyze the specific splicing patterns that lead to dysfunction. This approach could provide insights into the mechanisms behind retinal degeneration and potential therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for retinal diseases, potentially restoring vision for patients affected by conditions like retinitis pigmentosa.
How similar studies have gone: Previous research has shown promising results in understanding alternative splicing in other tissues, but this specific approach in retinal studies is relatively novel.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Keuthan, Casey — Johns Hopkins University
- Study coordinator: Keuthan, Casey
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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.