Understanding RNA issues in a severe brain disorder affecting young children
Official title: Investigating RNA dysregulation in Neurological Disease through study of Pontocerebellar Hypoplasia Type 1b
Funded at University of Southern California · NIH-11060955 · Data updated 2026-11-12
This study is looking at how changes in a specific gene can affect brain development in kids with Pontocerebellar Hypoplasia Type 1b, a serious condition that can lead to early childhood challenges, and it hopes to find new ways to help improve their health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Southern California NIH-funded |
| Lab location | 1 site (Los Angeles, UNITED STATES) |
| Project start | April 15, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $372,150 |
| NIH project number | 5R01NS131620-03 |
| Project ID | NIH-11060955 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old diagnosed with Pontocerebellar Hypoplasia Type 1b.
✕Less likely to help
Patients with neurological disorders other than PCH1b may not benefit from this specific research.
What this research studies
This research focuses on Pontocerebellar Hypoplasia Type 1b (PCH1b), a serious neurological disorder that leads to underdevelopment of the cerebellum and pons, often resulting in early childhood mortality. The study investigates how mutations in the EXOSC3 gene disrupt RNA processing, which is crucial for proper brain function and development. By exploring the role of the RNA exosome complex in this condition, researchers aim to uncover the mechanisms behind the disease and identify potential therapeutic targets. The research employs advanced biological models to analyze the effects of these mutations on brain development and function.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential treatments for PCH1b, improving outcomes for affected children.
How similar studies have gone: While the specific approach to studying PCH1b may be novel, research into RNA processing defects has shown promise in understanding other neurological conditions.
Where this research is happening
-
University of Southern California
Los Angeles, United States Active
Researchers
- Principal investigator: Morton, Derrick — University of Southern California
- Study coordinator: Morton, Derrick
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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.