RNA dysregulation in a rare childhood brain disorder (PCH1b)
Official title: Investigating RNA dysregulation in Neurological Disease through study of Pontocerebellar Hypoplasia Type 1b
Funded at University of Southern California · NIH-11617797 · Data updated 2026-11-12
Researchers are studying a rare genetic brain disease in young children to understand how RNA processing goes wrong and leads to damage in the cerebellum and brainstem.
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 | 2026 |
| Award (this year) | $49,800 |
| NIH project number | 3R01NS131620-04S1 |
| Project ID | NIH-11617797 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with Pontocerebellar Hypoplasia Type 1b or those with EXOSC3-related RNA processing mutations.
✕Less likely to help
Children without PCH1b or those not affected by EXOSC3 mutations are unlikely to benefit.
What this research studies
Pontocerebellar Hypoplasia Type 1b is a severe, often fatal brain disorder caused by EXOSC3 gene mutations that disrupt RNA processing. This project aims to model the disease and map how defects in the RNA exosome affect brain development and function. By studying the underlying RNA pathways, scientists hope to identify points where interventions could improve outcomes for affected children.
Why it matters
Potential benefit: If successful, the work could reveal targets for therapies to slow or lessen neurological damage in PCH1b.
How similar studies have gone: Previous work shows that RNA processing defects can underlie similar neurological conditions, but precise mechanisms in PCH1b remain to be clarified.
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
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.