Gene editing to treat Rett syndrome
Official title: Project 4: Therapeutic Gene Editing for Rett Syndrome
Funded at Jackson Laboratory · NIH-11089360 · Data updated 2026-11-12
This study is exploring new gene editing treatments for Rett syndrome, a condition that mainly affects girls and causes challenges with movement and communication, to see if we can fix the genetic changes that lead to these symptoms and improve their quality of life.
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 | 2025 |
| Award (this year) | $453,755 |
| NIH project number | 5U19NS132304-03 |
| Project ID | NIH-11089360 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are females diagnosed with Rett syndrome, particularly those with specific mutations in the MECP2 gene.
✕Less likely to help
Patients with Rett syndrome who do not have the targeted MECP2 mutations or those with other unrelated neurodevelopmental disorders may not benefit from this research.
What this research studies
This research focuses on developing therapeutic gene editing techniques to address Rett syndrome, a neurodevelopmental disorder primarily affecting females due to mutations in the MECP2 gene. The project aims to utilize advanced gene editing methods to correct specific mutations that lead to the symptoms of Rett syndrome, such as loss of motor skills and communication abilities. By leveraging insights from animal models, the research seeks to demonstrate the potential reversibility of neurological deficits associated with this condition. Patients may be involved in trials that assess the safety and efficacy of these innovative treatments.
Why it matters
Potential benefit: If successful, this research could significantly improve the quality of life for patients with Rett syndrome by potentially reversing neurological deficits.
How similar studies have gone: Previous studies using gene editing in animal models have shown promising results in reversing symptoms of Rett syndrome, indicating a potential pathway for successful treatment.
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
Other NIH-funded projects on the same topics.
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Neuronal Cholesterol Enzyme CYP46A1 and Rett Syndrome biology
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-
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.