Investigating the role of a gene in a type of hereditary brain disease
Official title: Role of TREX1 in age-related hereditary leukoencephalopathy
Funded at University of Pennsylvania · NIH-10931728 · Data updated 2026-11-12
This study is looking into how changes in a specific gene might cause a serious condition that affects vision and brain health, and it's for anyone interested in finding new ways to treat this condition since there aren't any good options right now.
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 start | September 20, 2023 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $795,004 |
| NIH project number | 5R01NS131480-02 |
| Project ID | NIH-10931728 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with retinal vasculopathy with cerebral leukoencephalopathy, particularly those with a family history of the condition.
✕Less likely to help
Patients with other forms of dementia or those without a genetic predisposition to RVCL may not benefit from this research.
What this research studies
This research focuses on understanding the mechanisms behind retinal vasculopathy with cerebral leukoencephalopathy (RVCL), a serious adult-onset vascular dementia that leads to brain atrophy and blindness. The study aims to explore how mutations in the TREX1 gene contribute to this condition, which currently has no effective treatment. Researchers are utilizing advanced animal and cellular models to uncover the molecular processes involved in the disease. The team, led by Dr. Jonathan Miner at the University of Pennsylvania, is also developing potential therapeutic approaches to target these mechanisms.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from RVCL, potentially improving their quality of life and extending survival.
How similar studies have gone: While the specific mechanisms of RVCL are still being explored, similar research approaches have shown promise in understanding other genetic forms of dementia.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Miner, Jonathan J — University of Pennsylvania
- Study coordinator: Miner, Jonathan 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.