Epigenetic changes in Down syndrome using human cell models
Official title: Investigating epigenetic mechanisms in Down syndrome using human cellular models
Funded at Broad Institute, INC. · NIH-11528961 · Data updated 2026-11-12
This grant studies how the epigenetic system in human cells is altered in Down syndrome and how these changes affect brain-related biology.
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, 2028 |
| Funding year | 2026 |
| Award (this year) | $707,150 |
| NIH project number | 4R01HD111876-02 |
| Project ID | NIH-11528961 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Down syndrome or their biological samples may be relevant for future related studies or confirmation steps.
✕Less likely to help
Direct patient treatment is not part of this study; it is a basic science investigation.
What this research studies
Researchers will use human induced pluripotent stem cells from individuals with Down syndrome to map histone modifications and chromatin states. The work aims to link these epigenetic changes to functional cellular outcomes, moving beyond mouse models. By comparing trisomy 21 cells to euploid controls, the project seeks to identify molecular pathways that could be targeted to reduce neurological differences in Down syndrome.
Why it matters
Potential benefit: A better understanding of brain-related epigenetic changes in Down syndrome could lead to new therapeutic strategies.
How similar studies have gone: Previous work has shown that epigenetic differences exist in Down syndrome, but this project adds a comprehensive, PTM-wide view in human cells.
Where this research is happening
-
Broad Institute, INC.
Cambridge, United States Active
Researchers
- Principal investigator: Nehme, Ralda — Broad Institute, INC.
- Study coordinator: Nehme, Ralda
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.