Why the retinal pigment epithelium fails in pattern dystrophy
Identifying mechanistic pathways underlying RPE pathogenesis in models of pattern dystrophy
This work looks for early cellular changes in the retinal pigment epithelium linked to pattern dystrophy and related macular diseases so new treatments might stop or slow vision loss.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project ID | NIH-11285288 on NIH RePORTER |
What this research studies
If you have pattern dystrophy or early macular disease, researchers will study genetic mouse models that mirror human CTNNA1 and LRATD2 changes to see what goes wrong in the retinal pigment epithelium (RPE). They will compare early (pre-symptom) and late-stage cellular and tissue changes to find shared pathways and networks caused by these mutations. The team will search for druggable targets that act before irreversible damage occurs, using clinical, functional, and molecular analyses in the models. Findings are intended to point toward therapies that could prevent, delay, or reduce severity of RPE-related vision loss.
Who could benefit from this research
Good fit: People with pattern dystrophy, early-onset macular degeneration, Leber congenital amaurosis, or known CTNNA1 or LRATD2 genetic changes would be most relevant to this work.
Not a fit: Patients with eye diseases unrelated to RPE dysfunction (for example primary glaucoma or diabetic retinopathy) or without RPE-related genetic findings are less likely to directly benefit.
Why it matters
Potential benefit: If successful, this could point to treatments that prevent or slow RPE-driven vision loss in pattern dystrophy and some forms of age-related macular degeneration.
How similar studies have performed: Animal-model studies have previously revealed mechanisms and targets for retinal disease, but applying findings specifically from Ctnna1 and Lratd2 to prevent RPE damage is a newer, less-tested approach.
Where this research is happening
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Naggert, Juergen K. — Jackson Laboratory
- Study coordinator: Naggert, Juergen K.
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.