Genetic causes of early-onset cone and cone-rod vision loss
Genetics of early onset retinal diseases
This project uses advanced genome sequencing and lab testing to find genetic causes of early-onset cone and cone-rod vision loss in patients and their families.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project ID | NIH-11327951 on NIH RePORTER |
What this research studies
We will study people and families with early-onset cone and cone-rod inherited retinal disease, focusing on the more than 570 families whose genetic cause is still unknown. The team will use both short- and long-read whole genome sequencing to find mutations that standard tests miss and then perform lab-based functional tests to see how candidate changes damage cone photoreceptors. The work builds on a collection of over 1,500 well-characterized families and combines human genetic data, biological models, and existing clinical information. The goal is to increase the number of patients who receive a clear genetic diagnosis and to clarify the biological mechanisms behind cone degeneration.
Who could benefit from this research
Good fit: People with early-onset cone dystrophy, cone-rod dystrophy, or Leber congenital amaurosis—especially those whose prior genetic testing did not find a cause—are the ideal candidates.
Not a fit: Patients with adult-onset, primarily rod-driven retinal disease, non-genetic vision loss, or an already-known causative mutation may not receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could let more patients get a precise genetic diagnosis, improve counseling, and expand eligibility for gene-specific therapies or clinical trials.
How similar studies have performed: Similar genome-sequencing plus functional validation approaches have already found new genes for inherited retinal diseases, though use of long-read sequencing specifically for unsolved cone disorders is a more recent advance.
Where this research is happening
Irvine, United States
- University of California-Irvine — Irvine, United States (Active)
Researchers
- Principal investigator: Chen, Rui — University of California-Irvine
- Study coordinator: Chen, Rui
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.