C9ORF72 repeat RNA behavior in ALS and frontotemporal dementia
Single molecule study of C9ORF72 repeat RNA metabolisms in ALS/FTD
Researchers are using advanced single-molecule imaging, lab tests, and sequencing to learn how expanded C9ORF72 repeat RNAs act in adults with ALS and frontotemporal dementia.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11167117 on NIH RePORTER |
What this research studies
Scientists will track individual RNA molecules produced from the C9ORF72 repeat expansion using single-molecule imaging alongside biochemical assays and high-throughput sequencing. The project focuses on antisense repeat RNA and how it relates to the better-studied sense repeat RNA and the toxic proteins they produce. Team members will compare molecular findings to patient-derived material and prior work on sense-repeat processing. The goal is to map RNA metabolism steps that lead to neuron damage and to point toward targets for therapies such as antisense oligonucleotides.
Who could benefit from this research
Good fit: Adults (21+) with a diagnosis of ALS or frontotemporal dementia who carry the C9ORF72 repeat expansion would be the most relevant participants or sample donors.
Not a fit: People with ALS or FTD who do not have the C9ORF72 repeat expansion are less likely to benefit directly from these findings.
Why it matters
Potential benefit: If successful, this work could pinpoint molecular steps that cause neuron injury in C9ORF72-ALS/FTD and highlight targets for new therapies like antisense oligonucleotides.
How similar studies have performed: Prior biochemical and single-molecule studies have clarified sense-repeat RNA mechanisms, but applying these methods to antisense repeats is relatively new while clinical antisense oligonucleotide trials are only beginning.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Sun, Shuying — Johns Hopkins University
- Study coordinator: Sun, Shuying
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.