Genetic testing to find causes of childhood glaucoma in India
Genetic profiling of childhood glaucoma in India
This project will use genetic testing of children with glaucoma in India to find disease-causing genes and help more families get a clear diagnosis.
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-11181502 on NIH RePORTER |
What this research studies
If your child has been diagnosed with childhood glaucoma, this project will invite affected children in India to provide a blood or saliva sample for genetic testing. Researchers will perform whole-exome sequencing on hundreds of affected children, compare results to known childhood glaucoma genes, and look for new genetic causes. Clinical features will be matched with genetic findings to help explain why some children are affected more severely or early. The work is a collaboration between clinics in India and U.S. researchers and aims to expand access to genetic diagnosis for families.
Who could benefit from this research
Good fit: Ideal candidates are children (infants to adolescents) diagnosed with childhood or juvenile glaucoma, especially those receiving care at participating centers in India.
Not a fit: Patients without a detectable genetic change or those with only adult-onset glaucoma, or who cannot provide a sample or attend participating clinics, may not benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could increase the number of children who receive a genetic diagnosis, improving counseling, early detection in relatives, and future targeted care.
How similar studies have performed: Whole-exome and other genetic sequencing approaches have identified many adult glaucoma risk loci and some childhood genes, but most childhood cases remain unexplained, so this approach is promising though not yet comprehensive.
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.