Investigating genetic causes of early-onset glaucoma
Defining early-onset glaucomagenetic etiologies
This study is looking at the genes that might cause early-onset glaucoma, a type of eye condition that can lead to blindness in kids and young adults, to help find better ways to diagnose and treat it, making life easier for families dealing with this issue.
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-10868465 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors that contribute to early-onset glaucoma, a condition that can lead to irreversible blindness in children and young adults. By utilizing whole genome sequencing, the study aims to identify novel genes associated with this disease, which currently has limited treatment options and a high risk of blindness. The research will involve analyzing genetic variations in well-characterized patients to improve diagnostic tests and develop new therapeutic strategies. This work is crucial for providing better risk prediction and genetic counseling for affected families.
Who could benefit from this research
Good fit: Ideal candidates for this research include children and young adults diagnosed with early-onset glaucoma or those with a family history of the condition.
Not a fit: Patients with adult-onset glaucoma or those without a genetic predisposition to early-onset glaucoma may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic tools and targeted therapies for early-onset glaucoma, significantly reducing the risk of blindness in affected individuals.
How similar studies have performed: Previous research has successfully identified genetic factors in other forms of glaucoma, suggesting that this approach may yield valuable insights for early-onset cases as well.
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.