Genetic and gene-regulation causes of crossed eyes (strabismus)
Molecular mechanisms underlying strabismus risk
This work examines how rare DNA duplications and other gene changes may cause crossed or misaligned eyes in children and people with a family history of strabismus.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11249535 on NIH RePORTER |
What this research studies
If you join, researchers will study rare DNA duplications found in people with esotropia to see how they change gene activity and the 3D structure of DNA in cells. They will use laboratory models and molecular tools, including CRISPR, to mimic those changes and look at how nerve cells that control eye movement grow and function. The team will also sequence DNA from people with esotropia or exotropia to find small genetic changes and will use whole-genome sequencing to search for other genetic causes. Clinical information and DNA samples from affected individuals and relatives will be compared to understand inherited risk.
Who could benefit from this research
Good fit: Ideal candidates are people (especially children) with esotropia or exotropia and their first-degree relatives who can provide DNA samples and clinical eye exam information.
Not a fit: People whose eye misalignment is clearly caused by trauma, known non-genetic conditions, or who cannot provide DNA or clinical records may not directly benefit from this work.
Why it matters
Potential benefit: If successful, this work could enable genetic testing to identify people at higher risk and point toward treatments that target the underlying biology rather than only correcting eye alignment.
How similar studies have performed: Genetic sequencing has previously found some risk variants and the team recently identified recurrent duplications, but linking these changes to cell biology and new treatments is largely new.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Whitman, Mary Catherine — Boston Children's Hospital
- Study coordinator: Whitman, Mary Catherine
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.