Understanding how chromatin changes affect the brain in Down syndrome
Official title: Aberrant chromatin regulatory mechanisms in Down syndrome brain
Funded at Icahn School of Medicine at Mount Sinai · NIH-10998245 · Data updated 2026-11-12
This study is looking at how changes in brain chemistry related to having an extra copy of chromosome 21 affect thinking and learning in people with Down syndrome, and it hopes to find ways to boost brain health by adjusting a specific protein.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 18, 2024 |
| Project end | August 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $725,919 |
| NIH project number | 2R01HD097088-06 |
| Project ID | NIH-10998245 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults aged 21 and older who have been diagnosed with Down syndrome.
✕Less likely to help
Patients who do not have Down syndrome or those under the age of 21 may not benefit from this research.
What this research studies
This research investigates the role of chromatin regulatory mechanisms in the brains of individuals with Down syndrome (DS). It focuses on how the triplication of chromosome 21 leads to cognitive impairments and other neurological deficits. The study aims to explore the epigenetic processes that contribute to these issues, particularly through the protein BRWD1, which has been found to be upregulated in DS. By restoring normal levels of this protein in animal models, researchers hope to improve cognitive functions and brain health.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that enhance cognitive function and overall brain health in individuals with Down syndrome.
How similar studies have gone: Previous research has shown promising results in understanding chromatin mechanisms in Down syndrome, indicating potential for success in this area.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Maze, Ian S. — Icahn School of Medicine at Mount Sinai
- Study coordinator: Maze, Ian S.
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.
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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.
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.