Understanding genetic factors in age-related macular degeneration
Deciphering the mechanisms associated with high-risk AMD genotypes for ARMS2/HTRA1 andComplement Factor H
['FUNDING_U01'] · DOHENY EYE INSTITUTE · NIH-10925181
This study is looking at how certain genes might affect the way your eyes respond to stress as they age, which could help us understand age-related macular degeneration (AMD) better and lead to more personalized treatments for patients like you.
Quick facts
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | DOHENY EYE INSTITUTE (nih funded) |
| Locations | 1 site (Pasadena, UNITED STATES) |
| Trial ID | NIH-10925181 on ClinicalTrials.gov |
What this research studies
This research investigates how specific genetic variations contribute to age-related macular degeneration (AMD) by using patient-derived induced pluripotent stem cells (iPSCs) to create retinal pigment epithelium (RPE) cells. The study focuses on two key genetic markers, ARMS2/HTRA1 and Complement Factor H, which are associated with a higher risk of developing advanced AMD. By examining how these genetic factors affect the RPE's response to stress, the research aims to uncover the underlying mechanisms of AMD. Patients' genetic profiles will be analyzed to understand their unique stress responses, potentially leading to personalized treatment approaches.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with genetic predispositions to age-related macular degeneration, particularly those with specific SNPs in the ARMS2/HTRA1 and Complement Factor H genes.
Not a fit: Patients without genetic risk factors for age-related macular degeneration may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with age-related macular degeneration.
How similar studies have performed: Previous research has shown promise in using iPSC technology to study genetic diseases, indicating that this approach may yield valuable insights into AMD.
Where this research is happening
Pasadena, UNITED STATES
- DOHENY EYE INSTITUTE — Pasadena, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: FERRINGTON, DEBORAH ANN — DOHENY EYE INSTITUTE
- Study coordinator: FERRINGTON, DEBORAH ANN
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.