How TBX1 controls heart development
Cell fate choices by Tbx1 in forming the mammalian heart
['FUNDING_R01'] · ALBERT EINSTEIN COLLEGE OF MEDICINE · NIH-11324316
Researchers are learning how the TBX1 gene guides formation of the heart and nearby muscles in people with 22q11.2 deletion syndrome.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ALBERT EINSTEIN COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (BRONX, UNITED STATES) |
| Trial ID | NIH-11324316 on ClinicalTrials.gov |
What this research studies
This project uses mouse models that mimic human 22q11.2 deletion syndrome to track how TBX1 influences which cells become parts of the heart and branchiomeric (throat/feeding) muscles. Scientists apply single-cell RNA sequencing to read gene activity in individual cells and 3D DNA-contact methods to map regulatory interactions that control TBX1. They identified a new cell population called multilineage primed progenitors (MLPs) that may supply cells to the outflow tract and related muscles. By mapping these cells and the gene networks that direct their fate, the team hopes to explain why TBX1 changes lead to the heart and feeding/speech problems seen in patients.
Who could benefit from this research
Good fit: People with 22q11.2 deletion syndrome, especially those with congenital heart defects affecting the outflow tract or related feeding/speech issues, would be most relevant to this research.
Not a fit: Patients whose conditions are unrelated to TBX1 or 22q11.2 deletion (different genetic causes of heart disease) are unlikely to get direct benefits from this project.
Why it matters
Potential benefit: If successful, this work could reveal specific cells and molecular steps to target for future treatments or diagnostics for heart and feeding/speech problems in 22q11.2 deletion syndrome.
How similar studies have performed: Previous mouse-model and single-cell studies have linked TBX1 to heart development and shown value in these methods, but defining multilineage primed progenitors and their regulatory contacts is a newer direction.
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.
Conditions: 22q11 Chromosomal Microdeletion Syndrome, 22q11 Deletion Syndrome, 22q11.2 deletion syndrome