Exploring how epigenetic changes affect Down syndrome using human cell models
Official title: Investigating epigenetic mechanisms in Down syndrome using human cellular models
Funded at Broad Institute, INC. · NIH-10655152 · Data updated 2026-11-12
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 start | April 5, 2023 |
| Project end | March 31, 2026 |
| Funding year | 2023 |
| Award (this year) | $2,034,753 |
| NIH project number | 1R01HD111876-01 |
| Project ID | NIH-10655152 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Down syndrome, particularly those interested in contributing to advancements in understanding the condition.
✕Less likely to help
Patients without Down syndrome or those with other unrelated genetic conditions may not benefit from this research.
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.
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 gone: 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
-
Broad Institute, INC.
Cambridge, United States Active
Researchers
- Principal investigator: Barrett, Lindy Elise — Broad Institute, INC.
- Study coordinator: Barrett, Lindy Elise
Related research
Other NIH-funded projects on the same topics.
-
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.
-
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.
-
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.
-
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.
-
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.
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.