Why some families have more DNA mutations and how that affects cancer and birth defect risk
Investigating the landscape and genetic architecture of germline mutagenesis
Researchers are measuring how inherited differences in DNA repair change mutation rates to better understand links to cancer and birth defects.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11322570 on NIH RePORTER |
What this research studies
This work compares DNA mutation counts in human families and in specially bred mice to find inherited changes that increase mutation rates. Scientists will sequence genomes, analyze mutation patterns, and use the BXD mouse collection to map genes that influence somatic and germline mutagenesis. They will separate genetic effects from environmental exposures and reproductive history to pinpoint heritable causes. The goal is to build a framework for interpreting elevated mutation rates in families and their possible health consequences.
Who could benefit from this research
Good fit: Ideal candidates would include people or families with a history of unexplained birth defects or early-onset cancers, or those willing to contribute DNA samples for research on inherited mutation rates.
Not a fit: People seeking immediate treatment for an existing cancer or birth defect, or whose conditions are clearly caused by non-heritable environmental events, may not benefit directly from this work.
Why it matters
Potential benefit: If successful, the research could clarify inherited causes of higher mutation rates and improve genetic counseling, risk prediction, and prevention strategies for cancers and birth defects.
How similar studies have performed: Prior family sequencing and mouse genetic-mapping work has identified genes that affect mutation rates, but translating those findings into clinical practice is still early.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Harris, Kelley — University of Washington
- Study coordinator: Harris, Kelley
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.