How the TBX1 gene shapes early throat and heart development in 22q11.2 deletion syndrome
Official title: Dissecting the Molecular Role of TBX1 in the Context of Human Pharyngeal EndodermDevelopment
Funded at University of California-Irvine · NIH-11468525 · Data updated 2026-11-12
This project looks at how reduced TBX1 gene activity changes early throat and heart tissue development in people with 22q11.2 deletion syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project start | May 1, 2022 |
| Project end | April 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $392,500 |
| NIH project number | 7R01HL157139-05 |
| Project ID | NIH-11468525 on NIH RePORTER |
Who could benefit from this research
✓Could help
Although this is lab-based work that does not enroll patients, the findings are most relevant to individuals with 22q11.2 deletion syndrome and their families.
✕Less likely to help
People without 22q11.2 deletion or those seeking immediate clinical treatments are unlikely to receive direct benefit from this basic laboratory research.
What this research studies
Researchers will use laboratory-grown human cells that mimic the embryonic pharyngeal endoderm — the tissue that helps form the thymus, parathyroids, and parts of the heart — to model the stage when TBX1 is most important. They will change TBX1 levels and use genomic tools such as ATAC-seq to measure which genes and DNA regions become active or inactive. By combining these data, the team will build a network showing how TBX1 and other genes interact during development. The goal is to create a human-relevant map of molecular events that go awry in 22q11.2 deletion syndrome.
Why it matters
Potential benefit: If successful, this work could reveal molecular pathways behind the heart, immune, and facial features of 22q11.2 deletion syndrome and suggest targets for future diagnostics or therapies.
How similar studies have gone: Mouse studies have long shown TBX1 is essential for pharyngeal development, but human cell studies to date are limited and this project applies newer human cell models and genomic methods to fill that gap.
Where this research is happening
-
University of California-Irvine
Irvine, United States Active
Researchers
- Principal investigator: Sebastiano, Vittorio — University of California-Irvine
- Study coordinator: Sebastiano, Vittorio
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.