Molecular Pathways Behind Rett Syndrome in Humans
Official title: MOLECULAR PATHOGENESIS STUDIES OF RETT SYNDROME
Funded at Baylor College of Medicine · NIH-11366658 · Data updated 2026-11-12
A patient-focused look at how changes in the MECP2 gene affect brain function and development in Rett syndrome.
Quick facts
| Grant type | R37 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | September 4, 2006 |
| Project end | June 30, 2030 |
| Funding year | 2026 |
| Award (this year) | $401,250 |
| NIH project number | 2R37NS057819-21 |
| Project ID | NIH-11366658 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with Rett syndrome or related MECP2-related conditions, and families considering participation in future translational studies or trials.
✕Less likely to help
Purely basic science without immediate patient-facing outcomes or ongoing patient involvement.
What this research studies
This project studies how the MECP2 gene changes lead to the wide range of symptoms seen in Rett syndrome, including motor, cognitive, and autonomic problems. Researchers explore how MeCP2 interacts with other cellular players to control gene activity, which may explain why many genes are improperly turned on or off. The work involves detailed molecular analyses and may point to new targets for therapies that could improve daily life for people with Rett syndrome. Findings could inform future trials and biomarker development to monitor treatment effects.
Why it matters
Potential benefit: Potentially new targets or strategies for therapies that could lessen symptoms and improve quality of life for individuals with Rett syndrome.
How similar studies have gone: Previous work has identified broad gene expression changes in Rett syndrome, with ongoing efforts to translate these findings into therapies.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Zoghbi, Huda Y — Baylor College of Medicine
- Study coordinator: Zoghbi, Huda Y
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Understanding Rett Syndrome: How MECP2 Mutations Drive Brain Disease
This grant explores how mutations in MECP2 cause Rett syndrome and aims to uncover the brain changes that lead to intellectual disability in affected individuals.
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.