Integrative Curation of Clinically Relevant Variants in X-Linked Inherited Retinal Disease Genes
Funded at Baylor College of Medicine · NIH-11413431 · Data updated 2026-11-12
A project to expand expert review of genetic variants linked to X‑linked inherited retinal diseases so patients can access gene therapies.
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, 2028 |
| Funding year | 2026 |
| Award (this year) | $352,000 |
| NIH project number | 5U24EY032451-05 |
| Project ID | NIH-11413431 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with X-linked inherited retinal diseases whose genetic variants are being curated and interpreted for potential gene therapies.
✕Less likely to help
Patients without variants in the studied genes or those not pursuing genetic testing may see limited direct benefit.
What this research studies
This project scales up a panel that curates how genetic variants in X-linked retina disease genes are interpreted for clinical use. It builds on ClinGen collaboration to expand variant curation for seven genes and adds three more, aiming to improve how patients are diagnosed and connected to targeted therapies. The work involves coordinating experts worldwide to apply standardized criteria and provide ClinGen FDA‑approved assessments of variants. The effort focuses on translating genetic findings into clearer, actionable results for clinicians and patients. By refining which variants matter, more patients may be eligible for trials and treatment options.
Why it matters
Potential benefit: clearer and more accurate genetic results that help patients access relevant therapies and trials.
How similar studies have gone: Previous variant‑curation efforts have improved diagnostic and therapeutic decisions in IRD, with growing adoption in clinical practice.
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.
-
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.
-
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.
-
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.
-
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.
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Clear genetic answers for X-linked inherited retinal diseases
Building a trusted catalog of gene changes linked to X-linked inherited retinal diseases so people can get more accurate genetic diagnoses and access gene therapies.
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.