Understanding genetic causes of eye defects like microphthalmia and anophthalmia
Genomic analysis of microphthalmia, anophthalmia and coloboma
['FUNDING_R01'] · CINCINNATI CHILDRENS HOSP MED CTR · NIH-10914942
This study is looking at the genes that might cause serious eye conditions like microphthalmia, anophthalmia, and coloboma in kids, especially for those who haven't found answers from previous tests, to help improve care and treatment options for families affected by these conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CINCINNATI CHILDRENS HOSP MED CTR (nih funded) |
| Locations | 1 site (CINCINNATI, UNITED STATES) |
| Trial ID | NIH-10914942 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic factors contributing to microphthalmia, anophthalmia, and coloboma, which are serious birth defects affecting vision. By utilizing whole genome sequencing, the study aims to identify genetic variants in patients who have previously tested negative for known genetic causes. The research will involve analyzing genomic data from at least 200 patients and their parents to uncover novel mutations and better understand the genetic architecture of these conditions. This comprehensive approach may lead to improved patient care and future therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with microphthalmia, anophthalmia, or coloboma, especially those who have not found a genetic cause through previous testing.
Not a fit: Patients with well-defined genetic causes for their eye defects may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis and treatment options for patients with severe vision impairments due to these birth defects.
How similar studies have performed: Previous research has shown promise in identifying genetic causes of similar congenital defects using whole genome sequencing, indicating a potential for success in this approach.
Where this research is happening
CINCINNATI, UNITED STATES
- CINCINNATI CHILDRENS HOSP MED CTR — CINCINNATI, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SLAVOTINEK, ANNE M. — CINCINNATI CHILDRENS HOSP MED CTR
- Study coordinator: SLAVOTINEK, ANNE M.
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.