Understanding how certain genetic repeats cause neurodegenerative diseases
Official title: Deciphering the structural basis of repeat-associated non-AUG (RAN) translation in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Funded at University of Michigan at Ann Arbor · NIH-11024129 · Data updated 2026-11-12
This study is looking into how a specific genetic change in the C9orf72 gene causes harmful proteins to form, which are linked to ALS and Frontotemporal Dementia, and it aims to understand how this happens in nerve cells to help find better ways to tackle these conditions.
Quick facts
| Grant type | R01 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 start | September 18, 2024 |
| Project end | August 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $681,536 |
| NIH project number | 1R01NS140149-01 |
| Project ID | NIH-11024129 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Amyotrophic Lateral Sclerosis or Frontotemporal Dementia, particularly those with genetic mutations in the C9orf72 gene.
✕Less likely to help
Patients with other forms of neurodegenerative diseases that do not involve the C9orf72 gene may not benefit from this research.
What this research studies
This research investigates the mechanism by which a specific genetic repeat in the C9orf72 gene leads to the production of toxic proteins associated with Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). By using advanced techniques like cryo-electron microscopy, the study aims to uncover how these genetic repeats interact with the ribosome, the cellular machinery responsible for protein synthesis. The research will also explore the role of various protein factors that may influence this process in neurons, potentially revealing new insights into the initiation of translation for these harmful proteins.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for ALS and FTD by targeting the mechanisms that produce toxic proteins.
How similar studies have gone: Previous research has shown promising results in understanding similar mechanisms of protein synthesis and neurodegeneration, indicating that this approach may yield valuable insights.
Where this research is happening
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University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Brito Querido, Jailson — University of Michigan at Ann Arbor
- Study coordinator: Brito Querido, Jailson
Related research
Other NIH-funded projects on the same topics.
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Investigating how DNA damage and repair mechanisms are altered in ALS and frontotemporal dementia.
This study is looking at how problems with DNA repair might contribute to conditions like ALS and frontotemporal dementia, and it’s testing ways to fix these issues in cells from patients to help develop new treatments.
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C9orf72 ALS/FTD Prevent: prepping for future treatment
This grant aims to get ready for a preventive treatment for people who carry the C9orf72 genetic change that can lead to ALS or frontotemporal dementia.
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Understanding how a genetic repeat causes harmful protein production in ALS/FTD
Aimed at uncovering how a genetic repeat in the C9orf72 gene triggers abnormal protein production that damages nerve cells in ALS and FTD.
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How C9orf72 RNA repeats make toxic proteins in ALS and FTD
This research looks for how a repeated RNA sequence in the C9orf72 gene creates toxic proteins that can harm people with ALS or FTD.
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Cell and tissue changes that lead to sporadic ALS and frontotemporal dementia
This project looks at how physical changes inside cells and in their tissue can make TDP‑43 protein clump in people with sporadic ALS and frontotemporal dementia.
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Investigating new treatments for frontotemporal dementia and ALS using gene editing
This study is looking at ways to help people with frontotemporal dementia and ALS by using a special gene-editing tool to fix a harmful gene that causes these diseases.
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.