Understanding cell problems in Down syndrome and Down syndrome–associated Alzheimer’s
Official title: A Novel Approach to Molecular Cell Pathologies of Human Down Syndrome and DS-AD
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11508915 · Data updated 2026-11-12
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 start | September 12, 2017 |
| Project end | March 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $535,709 |
| NIH project number | 4R01HD091357-07 |
| Project ID | NIH-11508915 on NIH RePORTER |
Who could benefit from this research
✓Could help
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.
✕Less likely to help
People without Down syndrome and anyone seeking immediate clinical treatment are unlikely to receive direct benefit from this laboratory research.
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.
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 gone: 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
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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
Related research
Other NIH-funded projects on the same topics.
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Exploring how Down syndrome affects optic nerve health in kids
A study using a mouse model to understand why optic nerve problems are common in children with Down syndrome and how to prevent them.
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Executive Function Enhancement for Young Children with Down Syndrome
A caregiver-guided program for kids with Down syndrome aged up to 11 to strengthen their thinking skills during early childhood.
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Silencing an Extra Chromosome to Help Down Syndrome and Related Conditions
A patient-friendly plan to use a gene-based approach to quiet an extra chromosome in cells and a mouse model to reduce disease-related effects in Down syndrome and other chromosomal imbalance disorders.
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Infant Down Syndrome Brain and Behavior Study
A study of infants with Down syndrome to collect brain imaging and developmental data, creating a large, shared resource to understand how autism and other factors relate to development.
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DS-ARC: Smartphone-based cognitive check for people with Down syndrome at risk for Alzheimer’s
A smartphone-based cognitive test is being developed and tested for people with Down syndrome who may develop Alzheimer’s disease, to track changes quietly in daily life.
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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.