Understanding how cilia are formed and function in the brain
Identifying the molecular networks regulating cilium assembly and signaling
This study is looking at a protein called TTBK2 that helps tiny structures in our cells, called primary cilia, work properly, and it hopes to find new ways to understand and help people with hereditary nervous system disorders like ataxia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-10684123 on NIH RePORTER |
What this research studies
This research investigates the role of primary cilia, which are crucial for signaling in various tissues, particularly in the brain. It focuses on a specific protein, Tau Tubulin Kinase 2 (TTBK2), that is essential for the assembly and stability of these cilia. By studying how TTBK2 influences cilia formation and function, the research aims to uncover new pathways that could be linked to hereditary disorders affecting the nervous system. Patients may benefit from insights into how ciliary dysfunction contributes to conditions like hereditary ataxia.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with hereditary spinocerebellar degenerations or related neurodegenerative conditions.
Not a fit: Patients without hereditary neurodegenerative disorders or those over 21 years old may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating hereditary neurodegenerative disorders.
How similar studies have performed: Previous studies have shown that targeting ciliary pathways can be beneficial in understanding and potentially treating related hereditary conditions.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Goetz, Sarah — Duke University
- Study coordinator: Goetz, Sarah
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.