Investigating genetic factors in eye development disorders
Genomic duplications in anophthalmia, microphthalmia and coloboma
This study is looking into the genetic reasons behind serious eye problems like having very small eyes or missing eyes, and it's for people affected by these conditions; researchers will use zebrafish and DNA samples to find out more about the genes involved, which could help improve diagnosis and treatment options in the future.
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-10927418 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic causes of severe eye conditions such as microphthalmia, anophthalmia, and coloboma, which result in reduced eye size or absence of the eye. The researchers will analyze specific genetic variations known as copy number variations (CNVs) that may contribute to these conditions. By using zebrafish models and DNA samples from affected individuals, the study aims to uncover new genetic mechanisms and identify potential disease-causing regions in the genome. This could lead to better diagnostic tools and treatment options for patients with these eye disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with microphthalmia, anophthalmia, or coloboma, as well as their families.
Not a fit: Patients with eye conditions not related to genetic factors or those without a diagnosis of MAC may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide insights that lead to improved diagnosis and management of severe eye development disorders.
How similar studies have performed: Previous research has shown success in identifying genetic factors associated with similar eye disorders, indicating that this approach has potential for meaningful discoveries.
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.