Genetics of childhood microphthalmia, anophthalmia, and coloboma
Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children (MAGIC) Study
This work looks for genetic causes and related health patterns in children born with very small or missing eyes or coloboma to help improve diagnosis and care.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-11363270 on NIH RePORTER |
What this research studies
If your child has microphthalmia, anophthalmia, or coloboma, researchers will collect medical histories, detailed eye exams, imaging, and genetic samples such as blood or saliva, and may also ask close family members to provide samples. The team will combine deep clinical phenotyping with genetic sequencing to estimate how many cases are explained by known genes and to search for new genetic causes. They will record other health features that occur alongside the eye findings to define patterns that might point to underlying causes. Over time the study aims to create a population-level picture to support more precise diagnosis, counseling, and targeted follow-up care.
Who could benefit from this research
Good fit: Children from birth up to about 11 years old with microphthalmia, anophthalmia, or coloboma, and their willing first-degree relatives who can provide medical information and genetic samples, are ideal candidates.
Not a fit: Children without these specific congenital eye conditions, adults outside the stated age range, or families unwilling to provide medical records or genetic samples may not receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could lead to more accurate genetic diagnoses, better family counseling, and more tailored medical follow-up for children with these eye birth defects.
How similar studies have performed: Previous genetic studies have identified some genes linked to MAC but explain less than half of cases, so this larger, systematic deep-phenotyping and sequencing effort builds on prior partial successes to find additional causes.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Lupo, Philip — Emory University
- Study coordinator: Lupo, Philip
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.