Understanding inherited macular diseases to improve genetic testing
Structured quantification of inherited macular disease phenotypes as the basis for automated algorithms to determine causal genes
This study is looking to make genetic testing for inherited eye diseases more accurate by closely examining how different genes affect vision, so if you have a family history of macular diseases, your participation could help doctors better understand your condition and improve diagnoses for everyone.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11033312 on NIH RePORTER |
What this research studies
This research focuses on improving the accuracy of genetic testing for inherited macular diseases by characterizing the clinical manifestations associated with different genes. By gathering detailed phenotypic data from patients using advanced retinal imaging, the researchers aim to develop a predictive tool that can better identify the causal genes responsible for these conditions. The study will involve whole exome sequencing to confirm the causal gene in each patient, enhancing the understanding of how these genetic variations lead to disease. This approach seeks to bridge the gap between complex genetic data and clinical outcomes, ultimately aiming to provide clearer diagnoses for patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with inherited macular dystrophies who are seeking a genetic diagnosis.
Not a fit: Patients with macular diseases that are not inherited or those without a genetic component may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate genetic diagnoses for patients with inherited macular diseases, improving treatment options and patient care.
How similar studies have performed: Previous research has shown promise in using advanced imaging and genetic sequencing to improve diagnoses in genetic disorders, suggesting that this approach may yield successful outcomes.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Lee, Winston — Columbia University Health Sciences
- Study coordinator: Lee, Winston
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.