Detecting genetic variations linked to diseases
Official title: Single Molecule Detection of L1 Insertions and Intermediates
Funded at Dana-Farber Cancer Inst · NIH-11081934 · Data updated 2026-11-12
This study is working on new ways to look at tiny changes in our genes caused by special sequences called LINE-1, which might help us understand how these changes can affect our health and contribute to diseases like cancer.
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 start | April 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $704,816 |
| NIH project number | 4UH3NS132127-03 |
| Project ID | NIH-11081934 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with a family history of genetic disorders or cancers that may be influenced by somatic mutations.
✕Less likely to help
Patients with no known genetic predisposition to diseases related to somatic mutations may not benefit from this research.
What this research studies
This research focuses on developing advanced genomic tools to identify and analyze genetic variations caused by transposable elements, specifically long interspersed element-1 (LINE-1) sequences. By utilizing innovative single-cell mapping and long-read sequencing techniques, the project aims to uncover how these genetic variations contribute to somatic mosaicism in normal tissues. This could help in understanding the role of these variations in various diseases, including cancers. The multidisciplinary team combines expertise in genetics, epigenetics, and computational methods to create these tools.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and detection of genetic variations that contribute to diseases, potentially enhancing diagnosis and treatment options for patients.
How similar studies have gone: Previous research has shown promise in using genomic tools to detect genetic variations, indicating that this approach may lead to significant advancements in understanding genetic contributions to diseases.
Where this research is happening
-
Dana-Farber Cancer Inst
Boston, United States Active
Researchers
- Principal investigator: Burns, Kathleen H — Dana-Farber Cancer Inst
- Study coordinator: Burns, Kathleen H
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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.