Investigating the significance of genetic variants in the ABCA4 gene linked to inherited retinal diseases
Official title: Understanding ABCA4 Variants of Unknown Significance Through Computational and Functional Approaches
Funded at University of Delaware · NIH-11091475 · Data updated 2026-11-12
This study is looking at how certain changes in the ABCA4 gene can affect vision and help doctors better understand and treat inherited eye conditions that might lead to blindness, so they can provide better support and options for people with these genetic variations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Delaware NIH-funded |
| Lab location | 1 site (Newark, UNITED STATES) |
| Project start | June 1, 2024 |
| Project end | March 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $460,197 |
| NIH project number | 5R01EY036065-02 |
| Project ID | NIH-11091475 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with inherited retinal degenerations who have been identified as carrying ABCA4 variants of unknown significance.
✕Less likely to help
Patients without ABCA4 variants or those with well-characterized variants may not benefit from this research.
What this research studies
This research focuses on understanding the clinical implications of genetic variants in the ABCA4 gene, which are associated with inherited retinal degenerations that can lead to blindness. By employing advanced computational and functional approaches, the study aims to clarify the pathogenicity of variants of unknown significance (VUS) found in ABCA4. The research team will utilize a combination of in silico analyses and laboratory experiments to assess how these genetic variants affect protein function and disease progression. This work is crucial for improving genetic counseling and developing targeted therapies for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and treatment options for patients with inherited retinal degenerations.
How similar studies have gone: Previous research has shown promise in using computational and functional approaches to clarify the significance of genetic variants in other genes, suggesting potential success for this novel approach.
Where this research is happening
-
University of Delaware
Newark, United States Active
Researchers
- Principal investigator: Biswas-Fiss, Esther Elissa — University of Delaware
- Study coordinator: Biswas-Fiss, Esther Elissa
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.