Understanding cell problems in Down syndrome and Down syndrome–associated Alzheimer’s
A Novel Approach to Molecular Cell Pathologies of Human Down Syndrome and DS-AD
This project uses stem cells made from people with Down syndrome and a genetic switch to turn off the extra chromosome so researchers can pinpoint how the extra chromosome causes blood, brain, and Alzheimer‑related changes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project ID | NIH-11508915 on NIH RePORTER |
What this research studies
If you or a family member have Down syndrome, researchers grow induced pluripotent stem cells (iPSCs) from donated blood or skin cells and use an inducible XIST-based “switch” to silence the extra copy of chromosome 21 so they can directly compare cells with and without the extra chromosome. In earlier work they corrected known blood‑cell problems and now are extending the approach to study brain cell formation (neurogenesis) and blood vessel growth (angiogenesis). The team uses engineered XIST minigenes and molecular analyses to map which genes and cell types drive DS features and early-onset Alzheimer’s in people with Down syndrome. This lab-focused approach aims to reveal the key pathways that could be targeted by future therapies or diagnostics.
Who could benefit from this research
Good fit: Ideal candidates are people with Down syndrome (or their guardians) willing to provide a blood or skin sample and basic medical-history information so iPSCs can be made.
Not a fit: People without Down syndrome and anyone seeking immediate clinical treatment are unlikely to receive direct benefit from this laboratory research.
Why it matters
Potential benefit: Could identify specific gene pathways and cell targets that lead to new treatments to prevent or slow Down syndrome–associated Alzheimer’s and other DS complications.
How similar studies have performed: Earlier lab studies using chromosome silencing (including XIST approaches) have shown promise in correcting some DS cell defects, but moving these findings into human treatments remains new.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Lawrence, Jeanne Bentley — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Lawrence, Jeanne Bentley
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.