Understanding genetic variants in inherited retinal diseases
Integrative Curation of Clinically Relevant Variants in X-Linked Inherited Retinal Disease Genes
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 ID | NIH-10892188 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with inherited retinal diseases caused by mutations in X-linked genes.
Not a fit: Patients with inherited retinal diseases not linked to the specific X-linked genes being studied may not benefit from this research.
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 performed: 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
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.