Understanding vision loss in inherited retinal diseases
Photoreceptor Disease in Inherited Retinal Degenerations
This study is looking at inherited eye diseases that cause vision loss, like retinitis pigmentosa and Stargardt disease, to find out which parts of the retina are most at risk over time, so we can create better ways to track and slow down vision loss for people affected by these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11013365 on NIH RePORTER |
What this research studies
This research focuses on inherited retinal diseases (IRDs) that lead to progressive vision loss, specifically targeting conditions like autosomal dominant retinitis pigmentosa and Stargardt disease. By utilizing advanced genetic and genomic techniques, the project aims to identify specific retinal locations that are most vulnerable to deterioration over time. This individualized approach will help in developing better outcome measures for clinical trials, ultimately aiming to slow down vision loss in affected patients. The research employs artificial intelligence to enhance the prediction of disease progression, which could lead to more effective treatments.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with inherited retinal diseases, particularly those with RHO or ABCA4 mutations.
Not a fit: Patients with retinal diseases that are not genetically linked to the specific mutations being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved methods for predicting and potentially slowing vision loss in patients with inherited retinal diseases.
How similar studies have performed: Previous research has shown promise in using genetic and AI-based approaches to understand and treat inherited retinal diseases, indicating a potential for success in this novel application.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Cideciyan, Artur V — University of Pennsylvania
- Study coordinator: Cideciyan, Artur V
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 below.