Understanding how a genetic repeat causes harmful protein production in ALS/FTD

Who could benefit from this research

What this research studies

Researchers will study how an expanded GGGGCC repeat in C9orf72 starts non-traditional protein production that harms brain cells. They will use advanced imaging (cryo-EM) together with biochemical and genetic methods to see how the repeat interacts with the ribosome. The project also looks for neuronal protein factors that may promote this risky translation, potentially revealing new targets to prevent DPR toxicity. By understanding the initiation steps in a human-relevant context, the work could guide future therapies aimed at reducing harmful protein buildup.

Why it matters

Where this research is happening

• 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.

• 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.

  NIH research Methodist Hospital Research Institute · Houston, United States · NIH-9980670

• 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.

  NIH research University of Miami School of Medicine · Coral Gables, United States · NIH-11431628

• 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.

  NIH research University of Michigan at Ann Arbor · Ann Arbor, United States · NIH-11194424

• 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.

  NIH research Columbia University Health Sciences · New York, United States · NIH-11163326

• 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.

  NIH research J. David Gladstone Institutes · San Francisco, United States · NIH-11089394

• Understanding how certain genetic repeats cause neurodegenerative diseases

  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.

  NIH research University of Michigan at Ann Arbor · Ann Arbor, United States · NIH-11024129

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.