Genes linked to Chiari I malformation and syringomyelia and their effects on brain and spine development
Genetic Underpinnings of CM and SM and Effect on Brain Development
Looking at gene changes and imaging in people with Chiari I malformation and syringomyelia to learn how those changes affect brain and spine development.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-11182745 on NIH RePORTER |
What this research studies
This project analyzes genetic data and brain/spine imaging from people with Chiari I malformation (CM1) and syringomyelia (SM) to find additional genetic causes and imaging markers. The team will introduce specific patient-derived gene variants into zebrafish to observe effects on the brain, skull, spine, and cerebrospinal fluid spaces. By combining human genetics, imaging biomarkers, and animal modeling they aim to define distinct CM1 subtypes and earlier signs of disease. The goal is to use those findings to guide clinical decisions like surgery, CSF shunting, spinal fusion, or safe observation.
Who could benefit from this research
Good fit: People diagnosed with Chiari I malformation and/or syringomyelia, especially those with a family history or unusual head growth (idiopathic macrocephaly), are the most likely candidates for involvement.
Not a fit: People without CM1 or SM, or whose condition is clearly due to non-genetic causes, are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could allow earlier and more accurate diagnosis and help guide which patients need surgery versus other treatments or observation.
How similar studies have performed: Researchers have already identified some genetic causes and imaging markers for CM1, but using zebrafish to model specific human variants and link them to anatomical changes is a newer approach.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Haller, Gabriel E — Washington University
- Study coordinator: Haller, Gabriel 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.