Understanding how TBX1 affects development in the human throat area
Dissecting the Molecular Role of TBX1 in the Context of Human Pharyngeal Endoderm Development
This study is looking at how the TBX1 gene helps shape important parts of the throat and heart, which could lead to better understanding and treatment for conditions related to these areas.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11081748 on NIH RePORTER |
What this research studies
This research investigates the role of the TBX1 gene in the development of the pharyngeal endoderm, which is crucial for forming various structures in the throat and heart. By studying human cells at the appropriate developmental stages, the research aims to uncover the molecular mechanisms by which TBX1 influences these critical processes. The approach includes advanced techniques to analyze gene interactions and their effects on development, providing insights that could lead to better understanding and treatment of related conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with 22q11.2 Deletion Syndrome or those with related genetic conditions.
Not a fit: Patients without any genetic abnormalities or those not affected by 22q11.2 Deletion Syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with 22q11.2 Deletion Syndrome.
How similar studies have performed: Previous studies have shown promising results in understanding genetic roles in development, but this specific approach focusing on TBX1 in human cells is relatively novel.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Sebastiano, Vittorio — Stanford University
- 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 below.