Investigating the role of immune cells in Rett syndrome.
Official title: The role of skull bone marrow-derived CNS macrophages in Rett syndrome.
Funded at Washington University · NIH-10938021 · Data updated 2026-11-12
This study is looking at how certain immune cells from the skull might impact the symptoms of Rett syndrome, a condition that affects brain development, and aims to find new ways to help improve movement and thinking skills for those living with it.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | November 1, 2023 |
| Project end | October 31, 2025 |
| Funding year | 2025 |
| Award (this year) | $53,974 |
| NIH project number | 5F30HD112122-02 |
| Project ID | NIH-10938021 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 and motor regression.
✕Less likely to help
Patients with Rett syndrome who are in advanced stages of the disease or have significant comorbidities may not benefit from this research.
What this research studies
This research focuses on understanding how macrophages derived from skull bone marrow affect the progression of Rett syndrome, a severe neurodevelopmental disorder. It aims to explore the interactions between these immune cells and the central nervous system, particularly how they may influence cognitive and motor functions. By examining the role of the meningeal lymphatic network in brain health, the study seeks to identify new therapeutic strategies that could improve outcomes for patients with Rett syndrome.
Why it matters
Potential benefit: If successful, this research could lead to innovative treatments that improve cognitive and motor functions in patients with Rett syndrome.
How similar studies have gone: Previous research has shown promise in exploring neuroimmune interactions in other neurological disorders, suggesting potential for success in this novel approach.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Mazzitelli Perez, Jose Alejandro — Washington University
- Study coordinator: Mazzitelli Perez, Jose Alejandro
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This project explores turning on the silent MECP2 gene on the inactive X chromosome to help people with Rett syndrome feel better.
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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.