How differences in centromeres affect chromosome separation
Human centromere variation and function
This work looks at whether natural differences in the chromosome region called the centromere cause errors in cell division that can lead to miscarriage, birth defects, or cancer.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11247952 on NIH RePORTER |
What this research studies
The team will use advanced long-read DNA sequencing and new computer tools to read and assemble the repetitive centromere regions from many people. They will combine genetic, epigenetic, and RNA (multiomic) data to map how centromeres vary across individuals. Lab-based cell experiments will test whether specific centromere differences make chromosomes split incorrectly during cell division. Altogether, the project aims to build a model linking centromere variation to chromosome segregation problems.
Who could benefit from this research
Good fit: Ideal participants would be people willing to donate blood or tissue samples, including individuals or families affected by recurrent miscarriage, chromosomal birth defects, or cancers associated with aneuploidy.
Not a fit: People with health issues unrelated to chromosome segregation or those seeking immediate treatment changes are unlikely to receive direct benefit from this research.
Why it matters
Potential benefit: If successful, this could reveal why some people are more prone to chromosome-number errors and suggest new ways to detect or eventually prevent conditions caused by aneuploidy.
How similar studies have performed: Long-read sequencing has recently enabled assembly of other difficult genomic regions, but applying multiomic analysis and functional lab tests to link centromere variation to cell-division errors is largely novel.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Logsdon, Glennis Amelia — University of Pennsylvania
- Study coordinator: Logsdon, Glennis Amelia
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.