Investigating how a specific gene affects heart development in a genetic syndrome.
Cell fate choices by Tbx1 in forming the mammalian heart
This study is looking at how a gene called Tbx1 affects heart development in people with a specific genetic condition, hoping to find new ways to improve treatments for congenital heart disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project ID | NIH-11131399 on NIH RePORTER |
What this research studies
This research focuses on the role of the Tbx1 gene in the development of congenital heart disease, particularly in patients with 22q11.2 deletion syndrome. By using advanced techniques like single cell RNA-sequencing, the researchers aim to understand how Tbx1 influences the formation of heart structures and related muscles during early development. The study involves analyzing specific cell populations in mouse models to uncover new insights into heart formation and potential therapeutic targets. Patients may benefit from a better understanding of their condition and improved treatment options based on these findings.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with 22q11.2 deletion syndrome, particularly those experiencing congenital heart defects.
Not a fit: Patients without 22q11.2 deletion syndrome or those not affected by congenital heart disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment strategies for patients with congenital heart disease associated with 22q11.2 deletion syndrome.
How similar studies have performed: Previous research has shown promising results in understanding congenital heart disease through genetic studies, indicating that this approach may yield valuable insights.
Where this research is happening
Bronx, United States
- Albert Einstein College of Medicine — Bronx, United States (Active)
Researchers
- Principal investigator: Morrow, Bernice E — Albert Einstein College of Medicine
- Study coordinator: Morrow, Bernice 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.