Clear genetic answers for X-linked inherited retinal diseases
Integrative Curation of Clinically Relevant Variants in X-Linked Inherited Retinal Disease Genes
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 ID | NIH-11096712 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: Patients whose vision loss is non-genetic or caused by retinal conditions unrelated to the specified X-linked genes are unlikely to benefit directly.
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 performed: 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
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Worley, Kim C — Baylor College of Medicine
- Study coordinator: Worley, Kim C
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.