OPA1’s effect on retinal nerve cells in dominant optic atrophy
Role of OPA1 in Retinal Ganglion Cell Differentiation and the Pathogenesis of Dominant Optic Atrophy
This project creates human stem-cell models to help understand how changes in the OPA1 gene lead to retinal nerve cell loss in people with dominant optic atrophy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11181666 on NIH RePORTER |
What this research studies
As someone with dominant optic atrophy, this work makes retinal ganglion cells from human pluripotent stem cells so my disease can be studied directly in human cells. The researchers will use CRISPR to introduce or correct OPA1 mutations and produce large numbers of purified retinal ganglion cells that survive long-term. They will follow these cells from development through signs of degeneration using biochemical tests, electrical and functional measurements, cell appearance, and gene-expression analyses. The models are intended to reveal why OPA1 mutations specifically harm retinal ganglion cells and to create a platform for finding drugs.
Who could benefit from this research
Good fit: People with a confirmed OPA1 mutation or a clinical diagnosis of autosomal dominant optic atrophy would be the most relevant candidates to contribute samples or be considered for follow-up studies.
Not a fit: Patients whose optic neuropathy is caused by unrelated genes or non-genetic causes are unlikely to get direct benefit from this OPA1-focused research.
Why it matters
Potential benefit: If successful, this could point to specific biological steps that cause vision loss in OPA1-related optic atrophy and provide human cells to test new treatments.
How similar studies have performed: Mouse models and some stem-cell approaches have shown promise in studying OPA1 and retinal ganglion cells, but this project’s long-lived, highly purified human RGC platform is a newer and more disease-relevant approach.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Zack, Donald J. — Johns Hopkins University
- Study coordinator: Zack, Donald J.
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.