Investigating biological changes in Down syndrome using cell models
A mosaic Down syndrome model system comparing isogenic trisomic/disomic cells to unmask trisomy-21 related genomic, epigenomic, and senescence changes acquired across the lifespan
This study is looking at how Down syndrome affects the aging of cells and overall health by comparing cells from people with mosaic Down syndrome to those without, to better understand the changes that happen over time and how they might relate to other health issues.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Commonwealth University NIH-funded |
| Lab location | 1 site (Richmond, United States) |
| Project ID | NIH-10656746 on NIH RePORTER |
What this research studies
This research focuses on understanding the biological changes associated with Down syndrome, particularly how trisomy 21 affects cellular aging and health outcomes. By comparing cells from individuals with mosaic Down syndrome to those without, researchers aim to identify specific genetic and epigenetic alterations that occur over time. The study utilizes advanced techniques to analyze cellular changes, including the formation of micronuclei and telomere attrition, which may contribute to accelerated aging and related health issues. This approach could provide insights into the mechanisms behind co-occurring conditions in individuals with Down syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with mosaic Down syndrome who can provide cell samples for analysis.
Not a fit: Patients without Down syndrome or those with non-mosaic forms of Down syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of health conditions associated with Down syndrome.
How similar studies have performed: Previous research has shown promise in understanding genetic conditions through cellular models, suggesting potential for success in this novel approach.
Where this research is happening
Richmond, United States
- Virginia Commonwealth University — Richmond, United States (Active)
Researchers
- Principal investigator: Jackson-Cook, Colleen K — Virginia Commonwealth University
- Study coordinator: Jackson-Cook, Colleen K
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.