Understanding the causes of Pontocerebellar Hypoplasia Type 10
Disease Mechanisms of Pontocerebellar Hypoplasia Type 10
This study is looking into how a genetic condition called Pontocerebellar Hypoplasia Type 10 affects movement and thinking, using special cells and animal models to understand how certain gene changes cause problems, with the hope of finding new treatments.
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-10885028 on NIH RePORTER |
What this research studies
This research investigates the underlying mechanisms of Pontocerebellar Hypoplasia Type 10, a genetic neurodegenerative disorder that affects motor and cognitive functions. By utilizing human stem cell and animal models, the team aims to explore how mutations in RNA binding proteins disrupt normal RNA processing, leading to disease. The study employs advanced techniques such as high-throughput sequencing and behavioral assessments to identify specific molecular changes associated with the disorder and to evaluate potential gene-based therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Pontocerebellar Hypoplasia Type 10 or related genetic neurodegenerative conditions.
Not a fit: Patients with neurodegenerative disorders not linked to RNA binding protein mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating Pontocerebellar Hypoplasia Type 10 and similar neurodegenerative disorders.
How similar studies have performed: While the specific approach to Pontocerebellar Hypoplasia Type 10 is novel, similar research on RNA binding proteins has shown promise in understanding other neurodegenerative diseases.
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.