Finding important genetic changes in non-coding regions of DNA across different tissues
Development of an Efficient High Throughput Technique for the Identification of High-Impact Non-Coding Somatic Variants Across Multiple Tissue Types
['FUNDING_OTHER'] · BOSTON CHILDREN'S HOSPITAL · NIH-11081933
This study is looking at how certain genetic changes in normal tissues can affect your risk for diseases like cancer as you age, and it's testing a new, easier way to find these changes so that it can help improve health outcomes for patients.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BOSTON CHILDREN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11081933 on ClinicalTrials.gov |
What this research studies
This research focuses on identifying somatic mutations, which are genetic changes that occur in normal tissues and can influence disease risk, particularly in age-related conditions and cancer. The researchers aim to develop a new, efficient method using ATAC-seq technology to detect these mutations in non-coding regions of the genome, which are often overlooked but can have significant impacts on health. By improving the sensitivity and reducing the costs of detection, this approach hopes to provide a more accessible way to identify critical genetic changes that could lead to better patient outcomes. The study will involve a two-phase approach to refine this detection method and validate its effectiveness.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals at risk for age-related diseases or cancer who may have undetected somatic mutations.
Not a fit: Patients with no history of genetic mutations or those not at risk for age-related conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to earlier detection of disease risks and more personalized treatment strategies for patients.
How similar studies have performed: Previous research has shown promise in using advanced sequencing techniques to identify genetic mutations, suggesting that this approach could yield significant insights.
Where this research is happening
BOSTON, UNITED STATES
- BOSTON CHILDREN'S HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WALSH, CHRISTOPHER A. — BOSTON CHILDREN'S HOSPITAL
- Study coordinator: WALSH, CHRISTOPHER A.
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.