Silencing an Extra Chromosome to Help Down Syndrome and Related Conditions
Official title: Advancing XIST-based Epigenetics for Dosage Disorders: Silencing Trisomy 21 or Specific Chromosome Regions in Down Syndrome Mice and Human Organoids
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11600903 · Data updated 2026-11-12
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.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| 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 19, 2018 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $600,000 |
| NIH project number | 2R56HD094788-06A1 |
| Project ID | NIH-11600903 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be individuals with Down syndrome or other chromosomal dosage disorders whose conditions are influenced by chromosome 21 imbalance.
✕Less likely to help
Patients without chromosomal dosage disorders may not benefit directly from this research.
What this research studies
This grant aims to apply XIST-based epigenetics to silence an extra chromosome, potentially normalizing gene expression that contributes to Down syndrome and related conditions. Researchers will test this approach in a mouse model carrying human chromosome 21 and in human organoids to study how dosage correction impacts development and disease features. The work builds on prior steps showing that XIST can silence a chromosome, and will explore safety, feasibility, and meaningful biological changes in relevant models. If successful, it could lay the groundwork for future therapies that address chromosomal imbalance at the genetic level.
Why it matters
Potential benefit: If successful, this approach could reduce disease manifestations associated with Trisomy 21 and related dosage disorders by normalizing chromosome-wide gene expression.
How similar studies have gone: Previous work showed that XIST can silence a chromosome in DS patient iPS cells, suggesting a promising direction but still early in translation to therapies.
Where this research is happening
-
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
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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.
-
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.
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Executive Function Support for Young Children with Down Syndrome
A caregiver-led program helps young children with Down syndrome build executive function skills during a 12-week period.
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.