Correcting genetic mutations in Rett syndrome using advanced genome editing techniques
Official title: High Fidelity Genome Editing for the Correction of MECP2 Mutations and Physiologic Regulation of Expression in Rett Syndrome
Funded at Beckman Research Institute/city of Hope · NIH-11142256 · Data updated 2026-11-12
This study is exploring a new way to fix the gene that causes Rett syndrome, which mainly affects girls, with the hope of helping them feel better and improve their thinking and movement skills.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Beckman Research Institute/city of Hope NIH-funded |
| Lab location | 1 site (Duarte, United States) |
| Project start | April 15, 2025 |
| Project end | February 28, 2030 |
| Funding year | 2025 |
| Award (this year) | $738,182 |
| NIH project number | 1R01NS138604-01A1 |
| Project ID | NIH-11142256 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are females diagnosed with Rett syndrome who have specific mutations in the MECP2 gene.
✕Less likely to help
Patients with Rett syndrome caused by mutations outside of the targeted MECP2 exons or those with other unrelated conditions may not benefit from this research.
What this research studies
This research focuses on developing a precise method to correct mutations in the MECP2 gene, which causes Rett syndrome, a severe neurodevelopmental disorder primarily affecting females. The approach utilizes a novel genome editing platform that allows for accurate modifications without introducing harmful effects. By targeting specific mutations in the MECP2 gene, the research aims to restore normal gene function and alleviate symptoms associated with the disorder. Patients may benefit from this innovative therapy that seeks to improve cognitive and physical abilities.
Why it matters
Potential benefit: If successful, this research could lead to significant improvements in the quality of life for patients with Rett syndrome by correcting the underlying genetic cause of their condition.
How similar studies have gone: Previous gene therapy approaches for Rett syndrome have shown promising results, indicating that this method builds on existing successes in the field.
Where this research is happening
-
Beckman Research Institute/city of Hope
Duarte, United States Active
Researchers
- Principal investigator: Chatterjee, Saswati — Beckman Research Institute/city of Hope
- Study coordinator: Chatterjee, Saswati
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Studying how deep brain stimulation helps Rett syndrome in mice
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Molecular Pathways Behind Rett Syndrome in Humans
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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.