How cilia (cell antennae) and genes control signaling that shapes the brain
Genetic Dissection of Signaling and Cilia
Researchers will use genetically engineered mice to learn how changes in cilia-related genes alter cell signaling during brain development, which could help people with inherited ciliopathy disorders.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-11247981 on NIH RePORTER |
What this research studies
This project uses mouse models engineered with specific changes in a cilia-related gene called ARL13B to separate its roles in building cilia from its roles in sending cell signals. The team will run genetic screens and study different cell types in the developing brain to map how ARL13B and related GTPase proteins control traffic of signaling proteins into and within cilia. By tracing these pathways in detail, they aim to show how disruptions lead to abnormal Sonic hedgehog (Shh) signaling, a key driver of neural development. The work is laboratory-based using mouse genetics, molecular biology, and cell imaging to build a detailed picture of the molecular chain of events.
Who could benefit from this research
Good fit: People or families with known or suspected genetic ciliopathies or congenital brain-development disorders linked to cilia genes (for example ARL13B mutations) would be most relevant to this research.
Not a fit: Patients with conditions caused by acquired injuries or unrelated non-genetic diseases are unlikely to receive direct benefit from this basic mouse-focused research.
Why it matters
Potential benefit: If successful, the work could explain causes of some genetic ciliopathies and point to molecular targets for future treatments or diagnostics.
How similar studies have performed: Previous mouse genetics studies have shown cilia and ARL13B affect developmental signaling, but using precise genetic dissection to map individual pathway steps is a more novel approach and not yet translated to therapies.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Caspary, Tamara J. — Emory University
- Study coordinator: Caspary, Tamara 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.