Understanding the genetic causes of 22q11.2 deletion syndrome using zebrafish models
Official title: Mechanistic dissection of 22q11.2DS in zebrafish
Funded at Boston Children's Hospital · NIH-11000284 · Data updated 2026-11-12
This study is looking at how changes in a specific gene can affect the health and development of children with 22q11.2 deletion syndrome, using zebrafish to help understand how these changes might lead to heart and facial problems, with the goal of finding new ways to help kids with this condition.
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 start | March 1, 2024 |
| Project end | February 29, 2028 |
| Funding year | 2025 |
| Award (this year) | $559,110 |
| NIH project number | 5R01HL171206-02 |
| Project ID | NIH-11000284 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old diagnosed with 22q11.2 deletion syndrome or related conditions.
✕Less likely to help
Patients who do not have 22q11.2 deletion syndrome or similar genetic conditions may not benefit from this research.
What this research studies
This research investigates the genetic mechanisms behind 22q11.2 deletion syndrome, a condition that can lead to serious health issues in children, including heart defects and facial abnormalities. By using zebrafish as a model organism, researchers aim to understand how specific genetic deletions affect the development of critical structures in the body. The study focuses on the role of the TBX1 gene and its impact on craniofacial and cardiovascular development. Through this work, the researchers hope to identify potential targets for therapeutic interventions that could improve outcomes for affected children.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for children with 22q11.2 deletion syndrome.
How similar studies have gone: Previous research using zebrafish models has shown promise in understanding genetic syndromes, indicating that this approach may yield valuable insights.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Burns, Caroline E — Boston Children's Hospital
- Study coordinator: Burns, Caroline E
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.