Improving brain function in Rett syndrome
Restoring Cortical Network Function in Rett Syndrome
This study is looking at ways to help improve brain function in people with Rett syndrome by exploring how certain gene changes affect brain cells, with the hope of finding new treatments that can boost thinking skills.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11001230 on NIH RePORTER |
What this research studies
This research focuses on understanding and restoring brain network function in individuals with Rett syndrome, a severe neurodevelopmental disorder. By studying the cellular and synaptic dysfunctions that occur due to mutations in the MECP2 gene, the research aims to identify potential therapies that could reverse cognitive decline. The approach includes using advanced techniques like microelectrode arrays and calcium imaging to analyze neuronal activity and connectivity in both mouse models and human cells. The ultimate goal is to develop interventions that can enhance cognitive function in affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Rett syndrome, particularly those experiencing cognitive decline.
Not a fit: Patients with Rett syndrome who are at a very advanced stage of the disease or those without the MECP2 mutation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve cognitive abilities and overall quality of life for patients with Rett syndrome.
How similar studies have performed: Previous research in animal models has shown promising results in addressing similar synaptic dysfunctions, indicating potential for success in human applications.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Mierau, Susanna — Brigham and Women's Hospital
- Study coordinator: Mierau, Susanna
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.