Understanding C9orf72 repeat length and methylation in ALS and FTD
Official title: Length, methylation, and purity of expanded C9orf72 repeat across diseases, tissues, and cell populations
Funded at Mayo Clinic Jacksonville · NIH-11362877 · Data updated 2026-11-12
A Mayo Clinic team is studying the DNA repeat that causes ALS and FTD to learn how its size and chemical marks relate to disease features.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Jacksonville NIH-funded |
| Lab location | 1 site (Jacksonville, United States) |
| Project start | May 20, 2026 |
| Project end | April 30, 2031 |
| Funding year | 2026 |
| Award (this year) | $627,408 |
| NIH project number | 1R01NS144153-01A1 |
| Project ID | NIH-11362877 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with ALS or FTD associated with C9orf72 expansion who can provide biological samples.
✕Less likely to help
Patients without the C9orf72 expansion or who cannot provide consent or samples may not benefit.
What this research studies
This project will use advanced long-read DNA sequencing to measure the exact length of the C9orf72 repeat, its methylation, and surrounding sequence in people with ALS/FTD. By comparing tissue types and cell populations, researchers aim to explain why symptoms vary so much even within families. The study will focus on samples from patients and use state-of-the-art methods to get a more precise picture of the repeat expansion. Findings could inform future therapies and help predict disease risk and progression.
Why it matters
Potential benefit: If successful, results could lead to better understanding of disease mechanisms and guide new treatment approaches for ALS and FTD.
How similar studies have gone: Long-read sequencing has improved repeat characterization in other diseases, suggesting potential for progress here.
Where this research is happening
-
Mayo Clinic Jacksonville
Jacksonville, United States Active
Researchers
- Principal investigator: Van Blitterswijk, Marka — Mayo Clinic Jacksonville
- Study coordinator: Van Blitterswijk, Marka
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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.