Single-molecule detection of LINE-1 (L1) insertions
Single Molecule Detection of L1 Insertions and Intermediates
This project builds sensitive genomic tests to find rare LINE-1 genetic insertions and their intermediate forms in human tissues to improve understanding of how they may contribute to cancer and other diseases.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Dana-Farber Cancer Inst NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11332505 on NIH RePORTER |
What this research studies
You might be asked to donate tissue or blood so researchers can build sensitive genomic tools to find single LINE-1 (L1) insertion events and the DNA/RNA intermediates they create. They will combine single-cell mapping with long-read sequencing to read inserted sequences and measure the epigenetic state of source elements. The team will validate these methods on human samples and create computational pipelines to catalog L1 activity across normal and cancer tissues. These tools will be shared with the Somatic Mosaicism across Human Tissues (SMaHT) Network for use in other studies.
Who could benefit from this research
Good fit: Ideal candidates are people with cancer or others willing to provide tissue or blood samples for molecular analysis of somatic genetic changes.
Not a fit: People whose conditions are unrelated to somatic retrotransposition or who do not want genetic testing or tissue donation are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, these tools could reveal hidden genetic changes in patient tissues that drive cancer or other diseases, enabling better detection and more informed future treatments.
How similar studies have performed: Previous studies have detected L1 insertions using bulk and short-read sequencing, but the single-cell, long-read, and intermediate-detection methods here are largely novel and less tested.
Where this research is happening
Boston, United States
- Dana-Farber Cancer Inst — Boston, United States (Active)
Researchers
- Principal investigator: Burns, Kathleen H — Dana-Farber Cancer Inst
- Study coordinator: Burns, Kathleen H
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.