IMPDH1 and the health of retinal photoreceptors
IMPDH1 in photoreceptor function and disease
This project looks at how changes in the IMPDH1 protein affect the light-sensing cells in the retina, especially in people with inherited vision loss.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11285454 on NIH RePORTER |
What this research studies
Researchers study human IMPDH1 gene variants linked to inherited retinal degeneration using a mix of high-resolution protein imaging, lab tests of enzyme activity, and animal models. They compare the human protein to versions made in zebrafish and use genetically engineered fish that carry the same mutations to see how the retina changes over time. The team builds on initial findings showing the zebrafish model mirrors the degeneration seen in patients and will map how IMPDH1 structure and metabolism go wrong. Results will connect detailed molecular changes to cell damage in the retina and guide future therapy ideas.
Who could benefit from this research
Good fit: People with inherited retinal degeneration linked to IMPDH1 mutations, or individuals with similar unexplained photoreceptor loss who are interested in genetic studies or sample donation, would be most relevant.
Not a fit: Patients whose vision loss is due to unrelated causes or non-IMPDH1 genetic changes are unlikely to see direct benefit from this specific project.
Why it matters
Potential benefit: If successful, this work could reveal new targets and biological mechanisms to slow or prevent IMPDH1-related retinal degeneration.
How similar studies have performed: Zebrafish models and biochemical studies have successfully clarified other inherited retinal diseases, and preliminary work here shows a zebrafish line reproduces human IMPDH1-linked degeneration, though IMPDH1-specific mechanisms remain under study.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Brockerhoff, Susan E — University of Washington
- Study coordinator: Brockerhoff, Susan E
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.