How the ATR protein helps make healthy sperm and eggs
Coordination of Atr Signaling for Genetic Quality Control, Silencing, and DNA Repair during Meiosis
['FUNDING_R01'] · CORNELL UNIVERSITY · NIH-11377599
This work looks at how the ATR protein fixes DNA and silences problematic chromosomes during sperm and egg formation to help prevent miscarriages and birth defects for people trying to have children.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CORNELL UNIVERSITY (nih funded) |
| Locations | 1 site (ITHACA, UNITED STATES) |
| Trial ID | NIH-11377599 on ClinicalTrials.gov |
What this research studies
From a patient's perspective, researchers are examining how the ATR protein coordinates DNA repair, chromosome pairing, and the silencing of unpaired sex-chromosome regions during the special cell division that makes eggs and sperm. They will use laboratory models, genetics, genome-wide assays such as ATAC-seq, and imaging to follow these processes at the molecular level. The project focuses on events that, when they go wrong, lead to chromosome errors (aneuploidy) that cause miscarriages, infertility, or conditions like Klinefelter syndrome. By revealing the detailed steps that maintain genetic quality in gametes, the team hopes to identify targets that could one day reduce reproductive loss and birth defects.
Who could benefit from this research
Good fit: People affected by recurrent miscarriage, unexplained infertility with suspected chromosomal causes, or families concerned about sex-chromosome disorders could eventually benefit from this line of work.
Not a fit: Because this is laboratory-based basic research, it is unlikely to offer direct or immediate treatment benefits to patients right now.
Why it matters
Potential benefit: If successful, this research could point to ways to reduce miscarriages and birth defects by preventing chromosome errors during egg and sperm formation.
How similar studies have performed: Prior basic studies, mainly in animal models, have shown ATR plays key roles in DNA repair and meiotic chromosome silencing, but translating those findings into human treatments is still early and largely untested.
Where this research is happening
ITHACA, UNITED STATES
- CORNELL UNIVERSITY — ITHACA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WEISS, ROBERT S — CORNELL UNIVERSITY
- Study coordinator: WEISS, ROBERT S
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.
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