How missing 22q11.2 genetic material leads to heart and facial defects using zebrafish
Mechanistic dissection of 22q11.2DS in zebrafish
Researchers are using zebrafish to find how loss of genes at 22q11.2 causes heart and facial problems in children with 22q11.2 deletion syndrome.
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-11293425 on NIH RePORTER |
What this research studies
This project uses zebrafish models to follow the early embryonic cells that normally form parts of the face and outflow tract of the heart, focusing on how loss of TBX1 changes those cell fates. The team traces nkx2.5+ progenitor cells and studies when and why they fail to be specified, using genetic tools and genomic methods such as ATAC-seq to look at regulatory changes. By recreating key features of 22q11.2 deletion syndrome in fish, investigators aim to pinpoint the developmental steps that go wrong. The work is laboratory-based at Boston Children’s Hospital and does not enroll patients directly.
Who could benefit from this research
Good fit: There is no patient enrollment in this zebrafish work, but families of children with 22q11.2 deletion syndrome and clinicians treating them are the intended human beneficiaries of the findings.
Not a fit: Patients looking for an immediate treatment or a clinical trial to join should not expect direct or near-term therapeutic benefits from this basic, animal-model research.
Why it matters
Potential benefit: If successful, the findings could reveal when and how developmental problems start, guiding earlier diagnosis strategies and future therapies.
How similar studies have performed: Previous animal and cellular studies have linked TBX1 to the developmental defects seen in 22q11.2DS and this group has already shown similar zebrafish defects, though translating those insights into patient therapies remains unproven.
Where this research is happening
Boston, United States
- 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 below.