How a key gene and vitamin A signals help the pancreas make insulin cells
Intersection of signaling pathways and transcription factors regulating islet development
This project looks at how the GATA6 gene and retinoic acid (a vitamin A signal) work together to build insulin-producing beta cells and why mutations can cause newborn or adult-onset diabetes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11247486 on NIH RePORTER |
What this research studies
Researchers will use patient-derived stem cells (hiPSCs) and mouse models to follow pancreas development stages and see where GATA6 and retinoic acid signaling interact. They will study how specific human GATA6 mutations disrupt that interaction and change beta cell formation. The team combines lab experiments in cells with genetic mouse studies to pinpoint molecular steps that go wrong. This work builds on earlier findings from the same labs that showed a strong link between GATA6 and retinoic acid during pancreas development.
Who could benefit from this research
Good fit: People with pancreas agenesis or early-onset diabetes, especially those known or suspected to have GATA6 mutations, who can provide medical records or biological samples would be most relevant.
Not a fit: People whose diabetes is primarily autoimmune (typical type 1) or driven by metabolic type 2 processes are less likely to benefit directly from these findings.
Why it matters
Potential benefit: If successful, this research could improve genetic diagnosis and risk prediction and lay groundwork for therapies to preserve or restore insulin-producing cells in developmental forms of diabetes.
How similar studies have performed: Previous work using patient stem cells and mouse models from these groups showed synergy between GATA6 and retinoic acid in pancreas development, but translating that knowledge into clinical treatments is still new.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Gadue, Paul J — Children's Hosp of Philadelphia
- Study coordinator: Gadue, Paul J
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.