How gene-regulating proteins change the brain in Down syndrome
Aberrant chromatin regulatory mechanisms in Down syndrome brain
['FUNDING_R01'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-11194386
This project looks at how extra chromosome 21 changes a protein that controls gene activity in the brains of people with Down syndrome and in mouse models to understand memory and thinking problems.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11194386 on ClinicalTrials.gov |
What this research studies
Researchers are following up on findings that a protein called BRWD1 is higher in brains with Down syndrome and that it misdirects a key chromatin-remodeling complex (BAF). They use human brain cells or tissues together with trisomic mouse models to map where BRWD1 and BAF bind across the genome and how that changes gene activity. In mice, they restore normal BRWD1 levels to see whether brain cell signaling, gene expression, and learning and memory improve. The team links molecular changes to brain function and behavior to point toward targets that could eventually be tested for therapies.
Who could benefit from this research
Good fit: Adults with Down syndrome (and family members willing to support tissue donation or related clinical research visits) would be the most relevant participants for related human studies.
Not a fit: People without Down syndrome or those not willing to provide tissue samples or participate in research visits are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could reveal new molecular targets for treatments that improve cognition and brain health in people with Down syndrome.
How similar studies have performed: Prior animal work from this team showed that restoring normal Brwd1 levels in trisomic mice improved gene expression, synaptic plasticity, and cognition, but translation to human treatments remains untested.
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.