How a genetic change causes ALS/FTD and what we can do about it
Official title: Poly(ADP-ribose) promotes the condensation and toxicity of C9orf72 arginine-rich dipeptide repeat proteins
Funded at University of Miami School of Medicine · NIH-11579284 · Data updated 2026-11-12
Researchers are studying how a genetic repeat in C9orf72 leads to toxic proteins that damage brain cells in ALS and FTD, with the goal of finding new treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Miami School of Medicine NIH-funded |
| Lab location | 1 site (Coral Gables, United States) |
| Project start | July 15, 2021 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $571,319 |
| NIH project number | 7R01NS117461-05 |
| Project ID | NIH-11579284 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with C9orf72-associated ALS/FTD or related neurodegenerative conditions may be eligible for future studies or samples.
✕Less likely to help
People without C9orf72-related ALS/FTD may not directly benefit from this basic mechanistic work.
What this research studies
This project looks at how specific toxic proteins called dipeptide repeats form and harm brain cells in people with C9ALS/FTD. Scientists will examine how these proteins interact with other cellular components, potentially disrupting stress responses and transport within cells. The work includes analysis in human tissues and animal models to understand the disease mechanism and identify potential intervention points that could lead to future therapies. The study aims to connect molecular changes to how the disease progresses in order to guide drug development.
Why it matters
Potential benefit: If successful, the research could reveal targets for therapies that reduce protein toxicity and slow ALS/FTD progression.
How similar studies have gone: Previous work has linked DPR toxicity to disease features, supporting the plausibility of translating these findings into therapies.
Where this research is happening
-
University of Miami School of Medicine
Coral Gables, United States Active
Researchers
- Principal investigator: Zhang, Yongjie — University of Miami School of Medicine
- Study coordinator: Zhang, Yongjie
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.