Understanding the genetics of childhood glaucoma in India
Genetic profiling of childhood glaucoma in India
This study is looking at the genes that might cause childhood glaucoma, a condition that can lead to blindness, by analyzing the DNA of 480 children in India to find out more about the genetic changes linked to the disease, with the hope of improving how we diagnose and treat it, especially in areas where medical help is hard to get.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts Eye and Ear Infirmary NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10982952 on NIH RePORTER |
What this research studies
This research investigates the genetic factors contributing to childhood glaucoma, a leading cause of irreversible blindness. By conducting large-scale genetic profiling of affected children in India, the study aims to identify known and novel genetic mutations associated with the disease. The approach includes whole exome sequencing to analyze the DNA of 480 children, which will help in understanding the frequency of these mutations and their clinical implications. This research seeks to improve diagnostic options and treatment strategies for childhood glaucoma, particularly in regions where access to care is limited.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with glaucoma, particularly those living in India.
Not a fit: Patients with adult-onset glaucoma or those without a confirmed diagnosis of childhood glaucoma may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and treatment options for children suffering from glaucoma, potentially preventing blindness.
How similar studies have performed: Previous research has successfully identified genetic factors in adult glaucoma, but this specific focus on childhood glaucoma is relatively novel and underexplored.
Where this research is happening
Boston, United States
- Massachusetts Eye and Ear Infirmary — Boston, United States (Active)
Researchers
- Principal investigator: Wiggs, Janey L — Massachusetts Eye and Ear Infirmary
- Study coordinator: Wiggs, Janey L
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.