How genetic changes affect complement proteins in retinal pigment cells
Functional Analysis of Complement Variants in a Genotyped iPSC Epithelial Cell Model System
Researchers are comparing retinal cells made from people with intermediate age-related macular degeneration who carry complement gene changes to see how those changes change local inflammation and protein handling.
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-11231713 on NIH RePORTER |
What this research studies
If you have intermediate age-related macular degeneration, researchers will make retinal pigment epithelial (RPE) cells from your donated iPSCs (from blood or skin) to study how complement proteins behave. They will use eight patient-derived iPSC lines, including cells with a common CFH risk variant and matched lines where that variant was corrected, to compare results. The team will measure RNA and protein levels, intracellular and secreted complement components, and examine extracellular vesicles as carriers of complement. Findings aim to show how specific genetic differences change complement activity in RPE cells and contribute to AMD-related inflammation.
Who could benefit from this research
Good fit: Ideal candidates are adults with intermediate age-related macular degeneration who can provide tissue or blood samples and may have known CFH risk variants.
Not a fit: People without AMD, with very advanced late-stage AMD, or those without complement-related genetic variants are unlikely to benefit directly from this project.
Why it matters
Potential benefit: This work could reveal how certain complement gene variants drive inflammation in AMD and help guide future targeted treatments or selection for complement-directed therapies.
How similar studies have performed: Complement biology is strongly linked to AMD and complement-targeting therapies have shown mixed results in trials, while using patient-derived iPSC-RPE to probe variant effects is a newer but promising approach.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Stambolian, Dwight Edward — University of Pennsylvania
- Study coordinator: Stambolian, Dwight Edward
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.