Understanding inherited macular diseases to improve genetic testing
Official title: Structured quantification of inherited macular disease phenotypes as the basis for automated algorithms to determine causal genes
Funded at Columbia University Health Sciences · NIH-11033312 · Data updated 2026-11-12
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 start | January 1, 2025 |
| Project end | December 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $105,516 |
| NIH project number | 1K99EY036930-01 |
| Project ID | NIH-11033312 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with inherited macular dystrophies who are seeking a genetic diagnosis.
✕Less likely to help
Patients with macular diseases that are not inherited or those without a genetic component may not benefit from this research.
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.
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 gone: 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
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Lee, Winston — Columbia University Health Sciences
- Study coordinator: Lee, Winston
Related research
Other NIH-funded projects on the same topics.
-
Precision phenotyping of emphysema in the elderly: a study in diverse adults
Researchers will look at CT scans and lung tests in older adults to understand different forms of emphysema and how they relate to health outcomes.
-
HPV-based cervical cancer screening and treatment implementation in resource-limited settings
A collaborative project to help doctors in South Africa put HPV-based screening and same-day treatment for cervical cancer into routine care, so more people get fast, effective care.
-
Cervical cancer screening and treatment rollout in resource-poor settings
A team from Columbia and the University of Cape Town is testing how to best implement affordable, same-day HPV-based screen-and-treat for cervical cancer in public health settings.
-
Understanding SCN3A-related Developmental Epileptic Encephalopathy and Finding Better Treatments
This NIH grant focuses on how SCN3A gene variants cause developmental epileptic encephalopathy and aims to develop more effective therapies for affected patients.
-
mChoice: Boosting PrEP Use and Adherence for Black and Latino MSM with Tailored Training and Support
A national study to help Black and Latino men who have sex with men start and stick with PrEP through culturally matched provider training and patient support.
-
M-CaRE: Mobile clinics and a smart heart-lung care tool for multimorbidity
A mobile, multilingual tool plus community health workers will help screen and manage high blood pressure and COPD in diverse adult patients, especially in underserved areas.
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.