Creating a mouse model to study a genetic cause of ALS and dementia
Official title: A humanized mouse model for UBQLN2-associated ALS-dementia
Funded at University of Wisconsin-Madison · NIH-10754023 · Data updated 2026-11-12
This study is creating a special mouse model that closely resembles the genetic changes found in people with UBQLN2-related ALS and frontotemporal dementia, so researchers can learn more about how these changes cause nerve damage and explore new treatments for these challenging conditions.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $427,625 |
| NIH project number | 1R21AG084234-01 |
| Project ID | NIH-10754023 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with a family history of UBQLN2 mutations or those diagnosed with ALS or FTD.
✕Less likely to help
Patients with neurodegenerative diseases not associated with UBQLN2 mutations may not benefit from this research.
What this research studies
This research aims to develop a humanized mouse model that mimics the genetic mutations associated with UBQLN2-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). By using this model, researchers will investigate how these mutations lead to neurodegeneration and the diverse neurological symptoms seen in patients. The approach focuses on expressing the UBQLN2 mutations at natural levels to better understand their effects, which could lead to insights into disease mechanisms and potential treatments. This model could provide a platform for testing new therapies and understanding the progression of these debilitating conditions.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for ALS and frontotemporal dementia.
How similar studies have gone: Previous research has shown success in using humanized animal models to study neurodegenerative diseases, indicating that this approach could be promising.
Where this research is happening
-
University of Wisconsin-Madison
Madison, United States Active
Researchers
- Principal investigator: Tibbetts, Randal Scot — University of Wisconsin-Madison
- Study coordinator: Tibbetts, Randal Scot
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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.