Genetic causes of pontocerebellar hypoplasia
Molecular Characterization of Pontocerebellar Hypoplasia
This project looks for genetic changes and cellular pathways that cause pontocerebellar hypoplasia in children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11309591 on NIH RePORTER |
What this research studies
You would be part of a project that uses DNA sequencing and RNA studies to find the genes and molecular problems behind pontocerebellar hypoplasia (PCH). The team has built a unique group of 248 families and applies genomics, transcriptomics, and functional lab work to find known and new disease genes. They focus on problems in RNA splicing, tRNA/mRNA processing, and genome integrity that seem to cause loss of brainstem and cerebellar neurons. The goal is to define genetic subtypes and convergent pathways that can improve diagnosis and point toward future therapies.
Who could benefit from this research
Good fit: Ideal candidates are children with pontocerebellar hypoplasia or families with a child who has unexplained cerebellar and brainstem atrophy without a genetic diagnosis.
Not a fit: People without PCH, or those whose condition already has a confirmed genetic cause unrelated to the project's aims, are unlikely to gain direct benefit.
Why it matters
Potential benefit: If successful, this work could lead to more precise genetic diagnoses and provide targets for future treatments for children with PCH.
How similar studies have performed: Prior genomic studies have already identified over 30 PCH genes and revealed splicing and genome-integrity defects, so this project extends successful approaches while exploring novel genes and mechanisms.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Gleeson, Joseph G — University of California, San Diego
- Study coordinator: Gleeson, Joseph G
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.