Therapeutic gene editing approach for Rett syndrome in girls and young patients
Official title: Project 4: Therapeutic Gene Editing for Rett Syndrome
Funded at Jackson Laboratory · NIH-11326256 · Data updated 2026-11-12
A gene-editing approach for Rett syndrome (MECP2 mutations) aims to improve symptoms in children affected by this X-linked neurodevelopmental disorder.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | May 16, 2023 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $368,602 |
| NIH project number | 5U19NS132304-04 |
| Project ID | NIH-11326256 on NIH RePORTER |
Who could benefit from this research
✓Could help
Girls with Rett syndrome caused by MECP2 mutations, typically diagnosed in early childhood, could be future beneficiaries of successful therapy.
✕Less likely to help
People without Rett syndrome or without the specific MECP2 mutations studied may not directly benefit from this research.
What this research studies
Rett syndrome is a genetic brain disorder that primarily affects girls and disrupts milestones like movement and speech. This grant supports a therapeutic gene-editing strategy to address MECP2 mutations in a preclinical or translational framework. Researchers at The Jackson Laboratory plan to advance the goal with animal and cellular models to explore how restoring MECP2 function could improve motor skills, communication, and other Rett-associated challenges. The work is designed to move toward safer, targeted treatments that could benefit patients who carry MECP2 mutations.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic options that improve motor function, communication, and quality of life for individuals with Rett syndrome.
How similar studies have gone: Past studies in mouse models suggest that restoring MECP2 function can reverse neurological deficits, supporting the potential for benefit.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Lutz, Cathleen M — Jackson Laboratory
- Study coordinator: Lutz, Cathleen M
Related research
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A study to find measurable brain signals that show whether treatments are helping children with Rett syndrome.
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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.
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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.