NMNAT1’s role in protecting retinal cells and guiding gene therapies for inherited blindness
Official title: Mechanism Behind Nuclear-Specific Nicotinamide Adenine Dinucleotide (NAD+) Synthase, Nicotinamide Mononucleotide Adenylyl Transferase-1 (NMNAT1) in Retinal Photoreceptor Biogenesis and Health
Funded at West Virginia University · NIH-11368046 · Data updated 2026-11-12
A patient-focused look at how NMNAT1 supports retinal light-sensing cells and how new therapies might prevent early blindness in Leber congenital amaurosis.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | West Virginia University NIH-funded |
| Lab location | 1 site (Morgantown, United States) |
| Project start | September 1, 2026 |
| Project end | May 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $550,584 |
| NIH project number | 1R01EY037294-01A1 |
| Project ID | NIH-11368046 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with NMNAT1-related Leber congenital amaurosis or related retinal degenerative conditions could potentially benefit from future therapies developed from these findings.
✕Less likely to help
People without NMNAT1-related retinal disease may not directly benefit from this research.
What this research studies
This grant investigates why NMNAT1 is essential for retinal photoreceptor health and how its dysfunction leads to degeneration in LCA. Researchers will use advanced genetic and genomic approaches, including AAV-based vectors and ATAC sequencing, to map NMNAT1’s roles in NAD+ metabolism and cell survival in the retina. The work aims to identify non-enzymatic and compartment-specific functions of NMNAT1 that could be targeted by future gene therapies to protect vision. By understanding NMNAT1’s interaction with retinal development and NAD+ pools, the project seeks to pave new avenues for treating a severe inherited blindness.
Why it matters
Potential benefit: If successful, the research could inform gene therapy strategies to preserve or restore vision in people with NMNAT1-related LCA.
How similar studies have gone: Previous work has linked NMNAT1 to retinal health, and this project builds on known disease associations with potential for translating findings into therapies.
Where this research is happening
-
West Virginia University
Morgantown, United States Active
Researchers
- Principal investigator: Kolandaivelu, Saravanan — West Virginia University
- Study coordinator: Kolandaivelu, Saravanan
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.