Clear genetic answers for X-linked 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-11096712 · Data updated 2026-11-12
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.
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 | 2025 |
| Award (this year) | $352,000 |
| NIH project number | 2U24EY032451-04 |
| Project ID | NIH-11096712 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with a suspected or confirmed X-linked inherited retinal disease, unexplained early-onset vision loss, or uncertain genetic test results in one of the listed genes would be most relevant.
✕Less likely to help
Patients whose vision loss is non-genetic or caused by retinal conditions unrelated to the specified X-linked genes are unlikely to benefit directly.
What this research studies
This project brings together international experts to review and classify DNA changes in genes that cause X-linked inherited retinal diseases from the patient perspective. They are expanding their curated gene list from seven to ten X-linked genes and applying ClinGen-approved rules to decide which variants are disease-causing. The team combines data from diagnostic labs, research studies, and public databases like ClinVar to make transparent, standardized calls. These curated results are shared so doctors, genetic testing labs, and patients can get clearer genetic answers and identify trial or therapy options.
Why it matters
Potential benefit: Patients could receive more reliable genetic diagnoses and clearer information about eligibility for gene therapy trials and clinical care.
How similar studies have gone: ClinGen variant curation expert panels and ClinVar submissions have previously improved genetic diagnosis and care, so this work extends proven curation methods.
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.
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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.
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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.