Extra copies of DNA linked to very small or missing eyes and holes in the eye
Genomic duplications in anophthalmia, microphthalmia and coloboma
Looking for extra copies of pieces of DNA that may explain why some people are born with very small or missing eyes or with a hole in part of the eye (coloboma).
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Medical College of Wisconsin NIH-funded |
| Lab location | 1 site (Milwaukee, United States) |
| Project ID | NIH-11145748 on NIH RePORTER |
What this research studies
This project uses DNA from people affected by microphthalmia, anophthalmia, and coloboma (MAC) to look for duplicated regions of the genome (copy number gains) that might cause these eye differences. The team is focusing on specific regions including 3q29 and 20q11 found in multiple affected families in their collection. When they find candidate duplications, they test how extra copies affect eye development using zebrafish models to see which genes are dosage-sensitive. The combined human genetic and zebrafish work aims to link specific duplicated regions to the eye findings seen in patients.
Who could benefit from this research
Good fit: People of any age with microphthalmia, anophthalmia, or coloboma — especially those without a known genetic diagnosis and their family members — would be ideal candidates to contribute DNA or clinical information.
Not a fit: Patients whose eye differences are already explained by a known non-copy-number genetic change or by non-genetic causes may not gain direct benefit from this work.
Why it matters
Potential benefit: If successful, this work could increase the number of people with MAC who receive a genetic diagnosis and improve counseling and future research directions for therapy.
How similar studies have performed: Other studies have linked copy number changes to developmental eye problems, but the specific role of dosage gains at 3q29 and 20q11 is less well explored and is a newer area of study.
Where this research is happening
Milwaukee, United States
- Medical College of Wisconsin — Milwaukee, United States (Active)
Researchers
- Principal investigator: Semina, Elena V — Medical College of Wisconsin
- Study coordinator: Semina, Elena V
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.