Understanding how chromatin changes affect the brain in Down syndrome
Aberrant chromatin regulatory mechanisms in Down syndrome brain
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 ID | NIH-10998245 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults aged 21 and older who have been diagnosed with Down syndrome.
Not a fit: Patients who do not have Down syndrome or those under the age of 21 may not benefit from this research.
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 performed: 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
New York, United States
- 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.
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 below.