How genetic switches control limb formation
Cis-regulatory circuitry underlying Hedgehog mediated limb development
This work looks at how gene regulators called GLI control early limb development, with the goal of better understanding birth defects that affect arms and legs.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas at Austin NIH-funded |
| Lab location | 1 site (Austin, United States) |
| Project ID | NIH-11247525 on NIH RePORTER |
What this research studies
From a patient perspective, researchers are studying the molecular switches that turn limb-building genes on and off during early development. They use embryonic limb tissue and genomic tools (like ATAC-seq) to see how GLI proteins and related molecules change chromatin and enhancer activity. One aim is to find out why a GLI repressor is inactive before Hedgehog signals start, including roles for protein kinase A or overlap with GLI2. Another aim is to learn how GLI-driven repression changes chromatin marks such as H3K27 acetylation and accessibility at enhancers.
Who could benefit from this research
Good fit: People or families affected by congenital limb malformations or syndromes linked to Hedgehog pathway defects (including some ciliopathies) would be the most relevant group.
Not a fit: Patients with conditions unrelated to limb development or the Hedgehog/GLI pathway are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could clarify causes of congenital limb defects and point to targets for future diagnostics or therapies.
How similar studies have performed: Prior basic research in animal and molecular models has shown key roles for Hedgehog and GLI proteins in limb patterning, but translating these mechanistic findings toward patient therapies remains largely untested.
Where this research is happening
Austin, United States
- University of Texas at Austin — Austin, United States (Active)
Researchers
- Principal investigator: Vokes, Steven Alexander — University of Texas at Austin
- Study coordinator: Vokes, Steven Alexander
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.