Investigating brain pathways in a genetic condition that affects learning and behavior.
Cell-specific Functional and Transcriptomic Analysis of Plasticity Pathways in MECP2-Duplication Syndrome
This study is looking at how a genetic condition called MECP2-duplication syndrome affects the brain, especially in areas that help with learning and memory, using mice to find new ways to help improve the lives of those who have it.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10593623 on NIH RePORTER |
What this research studies
This research focuses on MECP2-duplication syndrome, a genetic condition that leads to severe developmental issues, including intellectual disability and epilepsy. The study aims to explore how specific brain pathways related to synaptic plasticity are affected in this syndrome using a mouse model. By employing advanced techniques to analyze individual brain cells, researchers hope to uncover new insights into the mechanisms of learning and memory in affected individuals. This could lead to identifying potential new treatment targets for improving outcomes in patients with this condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are males diagnosed with MECP2-duplication syndrome, particularly those experiencing cognitive and motor challenges.
Not a fit: Patients with other genetic conditions unrelated to MECP2-duplication syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that improve cognitive and behavioral outcomes for patients with MECP2-duplication syndrome.
How similar studies have performed: Previous research has shown promise in understanding synaptic plasticity in autism spectrum disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Smirnakis, Stelios Manolis — Brigham and Women's Hospital
- Study coordinator: Smirnakis, Stelios Manolis
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.