Understanding the C9orf72 Gene in ALS and FTD
Molecular Basis of Pathogenic Cascades in ALS/FTD Initiated from C9orf72 Hexanucleotide Repeat Expansion
This project aims to uncover how a specific genetic change in the C9orf72 gene causes diseases like ALS and frontotemporal dementia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11113888 on NIH RePORTER |
What this research studies
We want to understand the basic molecular steps that lead to diseases like ALS and frontotemporal dementia (FTD) when there's a specific genetic change in the C9orf72 gene. This genetic change, called a hexanucleotide repeat expansion, is a common cause of both familial and sporadic ALS and FTD. By exploring these disease mechanisms, we hope to find new ways to stop or slow down these conditions. This work focuses on the fundamental biology of how this genetic change harms brain and motor neuron cells.
Who could benefit from this research
Good fit: This foundational research is relevant for individuals and families affected by ALS, frontotemporal dementia, or other neurodegenerative conditions linked to the C9orf72 gene.
Not a fit: Patients whose conditions are not related to the C9orf72 gene expansion may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to new targets for therapies and treatments for ALS, frontotemporal dementia, and potentially other related neurodegenerative diseases.
How similar studies have performed: Our understanding of how these specific repeat elements cause diseases is still developing, and this project aims to discover novel mechanisms.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Wang, Jiou — Johns Hopkins University
- Study coordinator: Wang, Jiou
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.