Investigating the role of a gene in optic nerve cell development and disease
Role of OPA1 in Retinal Ganglion Cell Differentiation and the Pathogenesis of Dominant Optic Atrophy
This study is looking at how changes in a specific gene can cause vision loss in people with a condition called autosomal dominant optic atrophy, and it's using special stem cells to learn more about the disease and find new treatments.
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-10912505 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the OPA1 gene lead to the loss of retinal ganglion cells in patients with autosomal dominant optic atrophy (DOA). By developing human stem cell models, the researchers aim to track the progression of the disease from stem cell differentiation to cell degeneration. The study utilizes advanced CRISPR technology to create large quantities of healthy retinal ganglion cells, which will be analyzed for their biochemical and functional properties. This approach aims to uncover the mechanisms behind the disease and facilitate drug discovery efforts.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with autosomal dominant optic atrophy, particularly those with OPA1 gene mutations.
Not a fit: Patients with optic nerve conditions unrelated to OPA1 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from autosomal dominant optic atrophy.
How similar studies have performed: Other research has shown promise using similar stem cell and CRISPR approaches in understanding genetic diseases, indicating potential for success in this area.
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.