How errors during egg and sperm formation can change genes
Germline mutagenesis at meiotic double-strand breaks
['FUNDING_R01'] · SLOAN-KETTERING INST CAN RESEARCH · NIH-11321721
This work looks at how DNA breaks that happen when eggs and sperm form can create genetic changes that might affect future children.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | SLOAN-KETTERING INST CAN RESEARCH (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11321721 on ClinicalTrials.gov |
What this research studies
The team will track the natural DNA cuts made during the formation of eggs and sperm and map where those cuts sometimes lead to deletions or extra copies of DNA. They will study proteins such as ATM and SPO11 that control these breaks using laboratory models and genome sequencing data, including long-range human genomes. The project will catalogue the types of rearrangements that can arise at these break sites and test whether age changes the risk of such events. Overall, the work combines molecular lab experiments and genomic analysis to reveal mechanisms behind inherited DNA changes.
Who could benefit from this research
Good fit: People or families able to share genetic samples or long-range genome data, or individuals with unexplained inherited structural changes, would be most relevant to this work.
Not a fit: Individuals seeking immediate clinical treatment or symptom relief should not expect direct benefit from this basic science project.
Why it matters
Potential benefit: If successful, this research could clarify causes of inherited genetic changes and inform better genetic counseling, testing, or future prevention strategies.
How similar studies have performed: Large-scale human genome sequencing has already found germline rearrangements that support this concern, but the precise molecular mechanisms are still being worked out.
Where this research is happening
NEW YORK, UNITED STATES
- SLOAN-KETTERING INST CAN RESEARCH — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: JASIN, MARIA — SLOAN-KETTERING INST CAN RESEARCH
- Study coordinator: JASIN, MARIA
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.