TREX1's role in inherited adult-onset white-matter and retinal blood vessel disease
Role of TREX1 in age-related hereditary leukoencephalopathy
This project looks at how mutations in the TREX1 gene cause an inherited adult-onset condition that damages brain white matter and the retina, and tests new drug approaches to stop it.
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 ID | NIH-11109591 on NIH RePORTER |
What this research studies
You would be part of work led by the RVCL Research Center at the University of Pennsylvania and partners at the University of Michigan that studies people with RVCL, their samples, and lab models. Researchers use patient-derived cells, mouse models, and single-cell RNA sequencing to map how TREX1 mutations damage blood vessels, promote cellular senescence, and lead to dementia and vision loss. The team is developing first-in-class TREX1 inhibitors and protein degraders and testing them in cells and animals as steps toward potential therapies. Clinical coordination at the center means patients worldwide can contribute samples, clinical records, or possibly join future treatment trials.
Who could benefit from this research
Good fit: Ideal participants are adults (typically 21 or older) who carry RVCL-causing TREX1 mutations, have symptoms of retinal vasculopathy with cerebral leukoencephalopathy, or are close relatives for genetic and clinical study participation.
Not a fit: People with other types of dementia or without TREX1-related disease are unlikely to receive direct benefit from these TREX1-focused interventions.
Why it matters
Potential benefit: If successful, this work could lead to targeted drugs or therapies that slow or prevent vision loss and dementia in people with RVCL.
How similar studies have performed: This approach is fairly novel: preclinical cell and animal models have produced promising molecular leads, but there are no approved TREX1-targeted treatments yet.
Where this research is happening
Philadelphia, United States
- 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 below.