Investigating biological changes in Down syndrome using cell models
Official title: 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
Funded at Virginia Commonwealth University · NIH-10656746 · Data updated 2026-11-12
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 start | May 1, 2023 |
| Project end | April 30, 2026 |
| Funding year | 2023 |
| Award (this year) | $2,217,370 |
| NIH project number | 1R01HD111943-01 |
| Project ID | NIH-10656746 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with mosaic Down syndrome who can provide cell samples for analysis.
✕Less likely to help
Patients without Down syndrome or those with non-mosaic forms of Down syndrome may not benefit from this research.
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.
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 gone: 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
-
Virginia Commonwealth University
Richmond, United States Active
Researchers
- Principal investigator: Jackson-Cook, Colleen K — Virginia Commonwealth University
- Study coordinator: Jackson-Cook, Colleen K
Related research
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-
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DS-ARC: Smartphone-based cognitive check for people with Down syndrome at risk for Alzheimer’s
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Immune and NGF factors in Alzheimer’s for adults with Down syndrome
This grant studies why people with Down syndrome develop Alzheimer’s disease by looking at immune signals and nerve growth factor problems.
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.