Understanding genetic variants in inherited retinal diseases
Official title: Integrative Curation of Clinically Relevant Variants in X-Linked Inherited Retinal Disease Genes
Funded at Baylor College of Medicine · NIH-10892188 · Data updated 2026-11-12
This study is working to help people with inherited retinal diseases by bringing together experts to better understand the genetic changes that cause these conditions, so that patients can get more accurate diagnoses and access to new treatments that are being tested.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | August 1, 2022 |
| Project end | May 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $336,773 |
| NIH project number | 5U24EY032451-03 |
| Project ID | NIH-10892188 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with inherited retinal diseases caused by mutations in X-linked genes.
✕Less likely to help
Patients with inherited retinal diseases not linked to the specific X-linked genes being studied may not benefit from this research.
What this research studies
This research focuses on inherited retinal diseases (IRD), which are a leading cause of early-onset blindness. It aims to establish a variant curation expert panel to assess and classify genetic variants in key X-linked IRD genes. By coordinating with a team of global experts, the project will develop specifications for these genes and curate assessments of their variants, which is essential for effective gene therapy. The goal is to enhance molecular diagnosis, thereby improving patient access to targeted therapies currently in clinical trials.
Why it matters
Potential benefit: If successful, this research could significantly improve the accuracy of genetic diagnoses and expand access to effective gene therapies for patients with inherited retinal diseases.
How similar studies have gone: Previous research has shown success in similar approaches to variant curation and gene therapy, indicating a promising path forward for this project.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Worley, Kim C — Baylor College of Medicine
- Study coordinator: Worley, Kim C
Related research
Other NIH-funded projects on the same topics.
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Integrative Curation of Clinically Relevant Variants in X-Linked Inherited Retinal Disease Genes
A project to expand expert review of genetic variants linked to X‑linked inherited retinal diseases so patients can access gene therapies.
-
Intravitreal gene therapy for inherited retinal disease
A specialized gene therapy approach delivered inside the eye is being studied to help children with inherited retinal diseases maintain or improve vision.
-
Retinal Disease: Molecular Basis and Pathophysiology
A gene mutation linked to retinal disease is studied to understand how it changes cellular pathways and leads to vision problems.
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Genes that change how inherited retinal disorders behave
This work looks for other genes that change how CRB1-related inherited retinal diseases affect children and adults who carry CRB1 mutations.
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A new antibody drug to restore the retina’s protective barrier
This project tests a novel antibody designed to boost a natural signaling pathway to strengthen the retina’s protective barrier for people with retinal diseases that cause leaking or inflammation.
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Eye-injection gene therapy for inherited retinal disease
A gene therapy delivered by an injection into the eye aims to treat inherited forms of retinal degeneration, including in children.
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.