C9orf72-related brain changes in frontotemporal dementia and ALS
Official title: C9orf72-mediated features transcriptomic signatures and translational studies for frontotemporal dementia and related disorders
Funded at Mayo Clinic Jacksonville · NIH-11367328 · Data updated 2026-11-12
This NIH grant funds research to understand how a genetic change in C9orf72 affects brain regions in frontotemporal dementia and ALS, with the goal of identifying clues that could help patients in the future.
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 | June 15, 2022 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $528,338 |
| NIH project number | 5R01NS123052-03 |
| Project ID | NIH-11367328 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with or at risk for frontotemporal dementia or ALS related to C9orf72 expansion who contribute biological samples or participate in sequencing analyses may benefit from future advances.
✕Less likely to help
Individuals without C9orf72-related FTD/ALS or those not contributing samples may not directly benefit from this study.
What this research studies
Researchers will study multiple brain regions to map how C9orf72-related disease varies clinically and pathologically. They will measure levels of C9orf72 transcripts, RNA foci, and dipeptide repeats, and use long-read sequencing to size and methylate the expanded repeat. The project also includes whole-tissue RNA sequencing and single-nuclei transcriptomics to capture gene expression and cell diversity in the CNS. Short- and long-read sequencing will be combined to understand splicing defects linked to the condition. Data generated could guide future translational work and biomarker development for FTD and ALS patients.
Why it matters
Potential benefit: Findings could lead to biomarkers and targets that help diagnose and guide treatment for people with C9orf72-linked FTD/ALS.
How similar studies have gone: Prior studies in C9orf72-related disease have advanced understanding of transcripts and repeats, but comprehensive regional and multi-omics profiling remains an area with meaningful potential.
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
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.
-
Exploring how oxidative stress and ferroptosis affect frontotemporal dementia
A study using human iPSC-derived neurons from people with frontotemporal dementia to see how reactive oxygen species and a cell death process called ferroptosis relate to disease features.
-
Automated language analysis for Alzheimer’s disease and frontotemporal dementia in Latino and English speakers
A low-cost, automated speech and language analysis tool is being developed to help identify Alzheimer’s disease or frontotemporal dementia in Latino and English-speaking people.
-
Automated language analysis for Alzheimer’s and frontotemporal dementia across Latino and English-speaking groups
A low-cost, automated language study aims to help diagnose and understand Alzheimer’s and FTD in diverse Spanish- and English-speaking communities.
-
Automated language analysis to help diagnose Alzheimer’s and frontotemporal dementia in Latino and English speakers
A low-cost, computer-based method analyzes speech and language to help identify Alzheimer’s disease or frontotemporal dementia in Latino and English-speaking people.
-
Automated language analysis for Alzheimer's and frontotemporal dementia in Latino and English-speaking communities
A low-cost, computer-based language analysis method is being developed to help identify Alzheimer’s disease and frontotemporal dementia in Latino and English-speaking people.
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.