Understanding C9orf72-Related Frontotemporal Dementia and ALS
C9orf72-mediated features transcriptomic signatures and translational studies for frontotemporal dementia and related disorders
This project aims to better understand the brain changes in people with frontotemporal dementia (FTD) and ALS caused by a specific genetic change called C9orf72.
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 ID | NIH-10695432 on NIH RePORTER |
What this research studies
We are looking closely at different brain regions from individuals with C9orf72-related FTD and ALS to understand why symptoms vary so much. Our team will examine specific features of the C9orf72 gene, including its size and how it's expressed in cells. We will use advanced sequencing technologies to get a detailed picture of gene activity in different brain cells. This work will help us uncover the complex biological changes happening in these conditions.
Who could benefit from this research
Good fit: This foundational research focuses on understanding the disease mechanisms in individuals affected by C9orf72-related frontotemporal dementia and ALS.
Not a fit: Patients whose conditions are not linked to the C9orf72 genetic expansion may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of C9orf72-related FTD and ALS, potentially guiding the development of new diagnostic tools and treatments.
How similar studies have performed: While the C9orf72 expansion is a known cause of FTD and ALS, this project uses innovative targeted long-read sequencing technology to provide a more detailed and novel understanding of its effects.
Where this research is happening
Jacksonville, United States
- Mayo Clinic Jacksonville — Jacksonville, United States (Active)
Researchers
- Principal investigator: Van Blitterswijk, Marka — Mayo Clinic Jacksonville
- Study coordinator: Van Blitterswijk, Marka
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 below.