Understanding pontocerebellar hypoplasia type 10
Disease Mechanisms of Pontocerebellar Hypoplasia Type 10
Researchers are using patient-derived stem cells and animal models to find how a genetic mutation causes pontocerebellar hypoplasia type 10 and to test a gene-based therapy that could help affected children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-11124162 on NIH RePORTER |
What this research studies
This project looks at how a mutation in an RNA-binding protein leads to pontocerebellar hypoplasia type 10. Researchers grow human stem cells carrying the mutation and use animal models to compare molecular changes, nerve cell function, and movement. They apply high-throughput RNA sequencing, electrophysiology, histology, and behavioral tests to connect specific abnormal mRNA isoforms to disease signs. The team will also test a candidate gene-based therapy in their models to see if correcting the RNA changes improves nerve function and behavior.
Who could benefit from this research
Good fit: Ideal candidates are children or families affected by pontocerebellar hypoplasia type 10, particularly those able to share clinical history or provide biological samples for research.
Not a fit: People without PCH10 or those with unrelated neurodegenerative conditions are unlikely to benefit directly from this specific project.
Why it matters
Potential benefit: If successful, this work could point to a gene-based therapy that slows or prevents nerve degeneration and movement problems in children with PCH10.
How similar studies have performed: Gene-based treatments have helped some childhood motor neuron diseases like spinal muscular atrophy, but applying similar approaches to PCH10 is new and unproven.
Where this research is happening
Cleveland, United States
- Case Western Reserve University — Cleveland, United States (Active)
Researchers
- Principal investigator: Schaffer, Ashleigh E — Case Western Reserve University
- Study coordinator: Schaffer, Ashleigh E
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.