Exploring how epigenetic changes affect Down syndrome using human cell models
Investigating epigenetic mechanisms in Down syndrome using human cellular models
This study is looking at how certain changes in our genes might affect people with Down syndrome, using special lab-grown cells to better understand how these changes can influence their health and development.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project ID | NIH-10655152 on NIH RePORTER |
What this research studies
This research investigates the epigenetic mechanisms that contribute to Down syndrome, which is caused by an extra copy of chromosome 21. By utilizing human induced pluripotent stem cell models, the study aims to analyze changes in histone modifications that may influence gene expression and cellular function in individuals with Down syndrome. The researchers will conduct a comprehensive examination of how these epigenetic alterations impact the biology of the condition, moving beyond traditional gene-focused approaches. This innovative methodology seeks to uncover new insights into the underlying mechanisms of Down syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Down syndrome, particularly those interested in contributing to advancements in understanding the condition.
Not a fit: Patients without Down syndrome or those with other unrelated genetic conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of Down syndrome and potentially identify new therapeutic targets for improving patient outcomes.
How similar studies have performed: While the exploration of epigenetic mechanisms in Down syndrome is relatively novel, similar approaches in other genetic conditions have shown promising results.
Where this research is happening
Cambridge, United States
- Broad Institute, INC. — Cambridge, United States (Active)
Researchers
- Principal investigator: Barrett, Lindy Elise — Broad Institute, INC.
- Study coordinator: Barrett, Lindy Elise
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.