How chromosome centromeres are formed and kept working
Centromere identity, strength, and regulation
Researchers are working to understand and improve the chromosome 'center' (the centromere) to help prevent chromosome errors that can cause birth defects, miscarriage, aneuploidy, and 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-11257292 on NIH RePORTER |
What this research studies
Scientists will study the centromere, the special region of chromosomes that ensures accurate splitting of genetic material when cells divide, by examining the proteins and epigenetic marks that define centromere identity and strength. The team will use molecular and structural lab techniques and cell-based tests, including building and testing experimental human artificial chromosomes in cells. Results will show how centromere function is maintained and how failures lead to chromosome mis-segregation (aneuploidy). Over time this knowledge may guide new diagnostic tools or therapeutic strategies that address chromosome-level errors.
Who could benefit from this research
Good fit: Although this is lab-based research and not enrolling patients now, people affected by aneuploid conditions, recurrent pregnancy loss, or chromosome-driven cancers would be the eventual beneficiaries and possible candidates for related future studies.
Not a fit: People with health problems unrelated to chromosome mis-segregation or those needing immediate clinical treatment are unlikely to see direct, near-term benefits from this basic research.
Why it matters
Potential benefit: If successful, this work could lead to new ways to prevent or correct chromosome errors that cause miscarriages, birth defects, and some cancers, and could enable safer tools for gene delivery using artificial chromosomes.
How similar studies have performed: Previous basic research has successfully identified key centromere components and produced experimental human artificial chromosomes, but translating these findings into clinical treatments is still at an early stage.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Black, Ben E. — University of Pennsylvania
- Study coordinator: Black, Ben E.
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.