Genetic analysis of UBQLN2-related neurodegenerative disease in ALS/FTD

Who could benefit from this research

What this research studies

This project looks at how mutations in UBQLN2 cause neurodegeneration by combining fruit-fly genetics with human neuron models derived from patients’ cells. Using a fly-to-human approach, scientists identify pathways that make UBQLN2 toxicity worse and then test these findings in iPSC-derived motor neurons carrying ALS-associated UBQLN2 mutations. A special multi-mutation UBQLN2 variant, 4XALS, helps reveal disease mechanisms without simply overexpressing the protein. The goal is to map disease processes and point toward potential intervention strategies for ALS/FTD.

Why it matters

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

1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
3. For full project details, budget, and progress reports, visit the official NIH RePORTER page.