Genetic causes of embryo chromosome errors
Understanding genetic risk for aneuploid conception
['FUNDING_R01'] · RUTGERS, THE STATE UNIV OF N.J. · NIH-11321581
Using genetic data from IVF embryos, researchers will look for inherited gene changes that make some women more likely to produce embryos with the wrong number of chromosomes.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | RUTGERS, THE STATE UNIV OF N.J. (nih funded) |
| Locations | 1 site (PISCATAWAY, UNITED STATES) |
| Trial ID | NIH-11321581 on ClinicalTrials.gov |
What this research studies
If I am undergoing IVF, this project uses the routine genetic testing done on embryos (PGT-A) and the stored sequencing data from those embryos to find maternal genetic differences linked to chromosome errors. The team analyzes many low-coverage whole-genome sequences from blastocysts to spot genes that increase a woman’s chance of having aneuploid embryos at a given age. Promising candidate genes will then be tested in worm and fly models to see if those genes actually cause chromosome errors. The goal is to create methods clinics could use to perform genetics-based evaluations for patients in the future.
Who could benefit from this research
Good fit: People having IVF with PGT-A, especially women with recurrent pregnancy loss or repeatedly high rates of aneuploid embryos, are the most relevant candidates.
Not a fit: People whose infertility is due to non-chromosomal causes, those not using IVF/PGT-A, or those not seeking pregnancy are unlikely to benefit directly.
Why it matters
Potential benefit: This work could lead to genetic tests that help predict a woman’s risk of producing embryos with chromosome errors and guide personalized fertility counseling.
How similar studies have performed: PGT-A is commonly used and previous research links maternal factors to aneuploidy, but using blastocyst sequencing to map maternal risk genes and validating them in worms and flies is a relatively new approach.
Where this research is happening
PISCATAWAY, UNITED STATES
- RUTGERS, THE STATE UNIV OF N.J. — PISCATAWAY, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SCHINDLER, KAREN A — RUTGERS, THE STATE UNIV OF N.J.
- Study coordinator: SCHINDLER, KAREN 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.