Improving brain function in Rett syndrome
Official title: Restoring Cortical Network Function in Rett Syndrome
Funded at Brigham and Women's Hospital · NIH-11001230 · Data updated 2026-11-12
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 start | January 1, 2024 |
| Project end | December 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $257,731 |
| NIH project number | 5K02NS131521-02 |
| Project ID | NIH-11001230 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Rett syndrome, particularly those experiencing cognitive decline.
✕Less likely to help
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.
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.
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 gone: 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
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Mierau, Susanna — Brigham and Women's Hospital
- Study coordinator: Mierau, Susanna
Related research
Other NIH-funded projects on the same topics.
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Neuronal Cholesterol Enzyme CYP46A1 and Rett Syndrome biology
A study in Rett syndrome explores whether tweaking a brain cholesterol enzyme called CYP46A1 could help with the disease by affecting brain pathways involved in Rett.
-
Neurophysiological biomarkers to speed Rett syndrome therapies
A study to find measurable brain signals that show whether treatments are helping children with Rett syndrome.
-
MeCP2 reactivation on the inactive X to treat Rett syndrome
This project explores turning on the silent MECP2 gene on the inactive X chromosome to help people with Rett syndrome feel better.
-
Glial signaling and breathing in Rett syndrome
Aims to understand how brain support cells (glia) in Rett syndrome affect breathing and whether IGF-1 related signals can improve it.
-
Studying how deep brain stimulation helps Rett syndrome in mice
Researchers are testing how deep brain stimulation affects brain cells and memory in a mouse model of Rett syndrome to uncover mechanisms that could guide future therapies.
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Molecular Pathways Behind Rett Syndrome in Humans
A patient-focused look at how changes in the MECP2 gene affect brain function and development in Rett syndrome.
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.