How C9ORF72 changes lead to frontotemporal dementia and ALS
Official title: Understanding Frontotemporal Dementia Using Drosophila and iPSC Models
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11307657 · Data updated 2026-11-12
Researchers are using fruit flies and nerve cells made from patient samples to find genes that make C9ORF72-linked frontotemporal dementia or ALS better or worse.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | April 15, 2017 |
| Project end | March 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $625,941 |
| NIH project number | 5R01NS101986-08 |
| Project ID | NIH-11307657 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal participants would be people diagnosed with frontotemporal dementia or ALS who carry the C9ORF72 repeat expansion and are willing to provide a blood or skin sample for iPSC generation.
✕Less likely to help
People without the C9ORF72 repeat expansion or with unrelated forms of dementia are unlikely to benefit directly from this work in the near term.
What this research studies
This project uses classic fruit fly genetics alongside neurons grown from patient-derived induced pluripotent stem cells (iPSCs) to model disease caused by the G4C2 repeat expansion in C9ORF72. The team looks at toxic repeat RNAs and dipeptide repeat (DPR) proteins that appear in patient brains and screens for genetic modifiers that change disease signs. Findings from flies guide experiments in human neurons to confirm which molecular pathways drive neurotoxicity. The ultimate goal is to point to biological targets that could be tested as future therapies.
Why it matters
Potential benefit: If successful, the work could reveal molecular targets that lead to new therapies for patients with C9ORF72-linked frontotemporal dementia or ALS.
How similar studies have gone: Previous lab studies using flies and patient iPSC neurons have identified disease pathways and modifiers, but turning those findings into approved treatments remains early and ongoing.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Gao, Fen-Biao — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Gao, Fen-Biao
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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.