Investigating how genetic variations in a key retinal protein affect vision loss.
Multiplex functional assay of variant effect in the retinal transcription factor CRX
['FUNDING_FELLOWSHIP'] · WASHINGTON UNIVERSITY · NIH-11010416
This study is looking at the CRX gene, which is important for healthy vision, to understand how different genetic changes can affect eye function, helping doctors make better decisions for people with inherited vision problems.
Quick facts
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WASHINGTON UNIVERSITY (nih funded) |
| Locations | 1 site (SAINT LOUIS, UNITED STATES) |
| Trial ID | NIH-11010416 on ClinicalTrials.gov |
What this research studies
This research focuses on the CRX gene, which plays a crucial role in the development of photoreceptor cells in the retina. By using advanced techniques like Deep Mutational Scanning, the study aims to assess the impact of various genetic mutations on the function of CRX. This will help clarify which mutations are harmful and which are benign, providing valuable insights for patients with inherited vision disorders. The goal is to create a comprehensive catalog of genetic variations to improve clinical decision-making and patient care.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Retinitis Pigmentosa, Cone-Rod Dystrophy, or Leber Congenital Amaurosis, particularly those with uncertain genetic variants.
Not a fit: Patients with vision loss not linked to genetic mutations in the CRX gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis and treatment options for patients with genetic forms of blindness.
How similar studies have performed: Previous research using similar genetic analysis techniques has shown promise in identifying pathogenic variants, suggesting that this approach could yield valuable insights.
Where this research is happening
SAINT LOUIS, UNITED STATES
- WASHINGTON UNIVERSITY — SAINT LOUIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SHEPHERDSON, JAMES LEWIS — WASHINGTON UNIVERSITY
- Study coordinator: SHEPHERDSON, JAMES LEWIS
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.