Understanding how mutations in a specific gene affect brain cells in Rett syndrome
Official title: Investigating mitochondrial dysfunction in human astrocytes with RTT-causing MECP2 mutations
Funded at State University New York Stony Brook · NIH-11083590 · Data updated 2026-11-12
This study is looking at how changes in the MECP2 gene affect important brain cells called astrocytes, which help support nerve cells, to better understand the challenges faced by people with Rett syndrome and find new ways to help them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University New York Stony Brook NIH-funded |
| Lab location | 1 site (Stony Brook, United States) |
| Project start | May 5, 2024 |
| Project end | April 30, 2029 |
| Funding year | 2025 |
| Award (this year) | $398,750 |
| NIH project number | 5R01NS136519-02 |
| Project ID | NIH-11083590 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Rett syndrome, particularly those with MECP2 mutations.
✕Less likely to help
Patients without MECP2 mutations or those with other neurodevelopmental disorders may not benefit from this research.
What this research studies
This research investigates the impact of mutations in the MECP2 gene on human astrocytes, which are crucial brain cells involved in supporting neurons. By using human stem cell models, the study aims to uncover how these mutations lead to dysfunction in astrocytes, affecting their structure, gene expression, and energy metabolism. The researchers will analyze the differences between human and mouse astrocytes to better understand the unique challenges faced by patients with Rett syndrome. This approach could reveal new insights into the disease mechanisms and potential therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with Rett syndrome.
How similar studies have gone: Previous studies using mouse models have shown promise, but this research focuses on human cells, making it a novel approach.
Where this research is happening
-
State University New York Stony Brook
Stony Brook, United States Active
Researchers
- Principal investigator: Ballas, Nurit — State University New York Stony Brook
- Study coordinator: Ballas, Nurit
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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.