Exploring how specific gene mutations affect neurodegeneration and cellular processes.
Official title: Understanding the role of patient-derived Ighmbp2 mutations in neurodegeneration and pre-rRNA processing
Funded at University of Missouri-Columbia · NIH-11004358 · Data updated 2026-11-12
This study is looking at how changes in a specific gene can cause certain nerve diseases, and by using mice that have these changes, researchers hope to learn more about how these diseases develop and how we might treat them better in the future.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Missouri-Columbia NIH-funded |
| Lab location | 1 site (Columbia, United States) |
| Project start | January 1, 2024 |
| Project end | December 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $559,861 |
| NIH project number | 5R01NS134816-02 |
| Project ID | NIH-11004358 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include young children under three years old diagnosed with SMARD1 or CMT2S.
✕Less likely to help
Patients with other forms of neurodegenerative diseases unrelated to IGHMBP2 mutations may not benefit from this research.
What this research studies
This research investigates the impact of mutations in the IGHMBP2 gene, which are linked to neurodegenerative diseases such as SMARD1 and CMT2S. By creating mouse models that mimic these mutations, the study aims to understand how these genetic changes lead to different disease outcomes. The research employs genetic and biochemical techniques to analyze the effects of specific mutations on disease progression and potential therapeutic responses. Patients may benefit from insights gained that could inform future treatment strategies.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for patients with SMARD1 and CMT2S.
How similar studies have gone: While research on IGHMBP2 mutations is limited, similar genetic studies have shown promise in understanding other neurodegenerative conditions.
Where this research is happening
-
University of Missouri-Columbia
Columbia, United States Active
Researchers
- Principal investigator: Lorson, Christian L. — University of Missouri-Columbia
- Study coordinator: Lorson, Christian L.
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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.