RNA problems in Pontocerebellar Hypoplasia Type 1b
Investigating RNA dysregulation in Neurological Disease through study of Pontocerebellar Hypoplasia Type 1b
This research looks at how changes in RNA and the EXOSC3 gene cause pontocerebellar hypoplasia type 1b in babies and young children.
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 ID | NIH-11310185 on NIH RePORTER |
What this research studies
If my child has PCH1b, this project focuses on how mutations in the EXOSC3 gene disrupt the RNA exosome, the cell machinery that controls RNA processing. Researchers will use multicellular lab models, biochemical tests, and animal or patient-derived cells to identify which RNAs are misprocessed and how that leads to loss of cerebellum and pons tissue. They will compare affected and normal cells or tissues to find specific RNA changes that explain why certain brain regions are especially vulnerable. The findings are intended to point toward molecular steps that could become targets for future therapies or improve genetic counseling for families.
Who could benefit from this research
Good fit: Ideal participants are infants or young children with a confirmed diagnosis of PCH1b or pathogenic EXOSC3 mutations, or families willing to provide clinical information and biological samples.
Not a fit: People without PCH1b or without EXOSC3 mutations, or those with unrelated neurological conditions, are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: Could identify molecular targets to guide development of future treatments and improve diagnosis or genetic counseling for affected families.
How similar studies have performed: Laboratory studies have previously linked RNA-processing defects to neurological disease, but focused work on EXOSC3 and PCH1b remains limited and exploratory.
Where this research is happening
Los Angeles, UNITED STATES
- 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 below.