Investigating the causes of neurodegeneration in CANVAS
Repeat associated neurodegeneration in CANVAS
This study is looking at how a specific genetic change affects balance and coordination in people with CANVAS, a condition that causes these problems, and it hopes to find new ways to help manage or treat it.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-10536010 on NIH RePORTER |
What this research studies
This research focuses on understanding cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS), a genetic condition that leads to progressive loss of coordination and balance. The study aims to explore the mechanisms by which specific genetic repeat expansions in the RFC1 gene contribute to neurodegeneration. By utilizing patient-derived induced pluripotent stem cell (iPSC) models, researchers will investigate how these genetic changes affect cellular function and lead to the symptoms associated with CANVAS. This research could provide insights into potential therapeutic targets for managing or treating this condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).
Not a fit: Patients with ataxia not related to the RFC1 gene or those with other unrelated neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for patients suffering from CANVAS.
How similar studies have performed: While the specific genetic mechanisms in CANVAS are still being explored, similar research approaches have shown promise in understanding other neurodegenerative conditions.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Todd, Peter K — University of Michigan at Ann Arbor
- Study coordinator: Todd, Peter K
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.