How Wnt5a controls bone and limb growth
Mechanism of Wnt5a signaling in skeletal development and diseases
This project looks at how a protein called Wnt5a guides bone and limb development and how changes in it lead to congenital skeletal disorders like Robinow syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project ID | NIH-11086588 on NIH RePORTER |
What this research studies
From a patient perspective, researchers are using mouse genetics, biochemical tests, and structural lab methods to see how two slightly different versions of Wnt5a and human WNT5A mutations change signaling during limb formation. They will study how Wnt5a brings cell surface receptors (Frizzled and Ror1/2) together, how far and how strongly the signal spreads, and how mutations linked to Autosomal Dominant Robinow syndrome alter those properties. Work includes comparing signaling potency and range, visualizing receptor clustering, and analyzing protein structure to find how small changes disrupt normal bone patterning. The goal is to connect specific genetic changes to the biological steps that produce dwarfism and skeletal dysplasia so future therapies can target those steps.
Who could benefit from this research
Good fit: People with congenital skeletal disorders, especially those diagnosed with or suspected to have Autosomal Dominant Robinow syndrome or known WNT5A mutations, would be most relevant to this research.
Not a fit: Patients with bone conditions unrelated to WNT5A signaling or those seeking immediate clinical treatment are unlikely to receive direct benefit from this lab-focused project.
Why it matters
Potential benefit: If successful, this work could explain how WNT5A mutations cause skeletal disorders and point to molecular targets for therapies or regenerative approaches.
How similar studies have performed: Earlier mouse genetic studies have shown Wnt5a is crucial for limb development, but the specific roles of the two isoforms and the structural effects of ADRS mutations are largely new questions.
Where this research is happening
Birmingham, United States
- University of Alabama at Birmingham — Birmingham, United States (Active)
Researchers
- Principal investigator: Wang, Jianbo — University of Alabama at Birmingham
- Study coordinator: Wang, Jianbo
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.