Congenital Hydrocephalus Genes Studied in a Frog Model
Official title: Analysis of Congenital Hydrocephalus Genes in Xenopus
Funded at Yale University · NIH-11349751 · Data updated 2026-11-12
Researchers are studying why certain genes linked to congenital hydrocephalus cause brain ventricle problems, using frog embryos to model the disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | June 1, 2022 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $460,364 |
| NIH project number | 5R01NS127879-05 |
| Project ID | NIH-11349751 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with congenital hydrocephalus or those with known CH-related gene variants who could benefit from improved knowledge about disease pathways.
✕Less likely to help
Patients without CH or without related genetic factors may not directly benefit from this basic model-focused work.
What this research studies
This project uses the Xenopus frog model to explore how genes like SMARCC1, TRIM71, PTCH1, and SHH contribute to congenital hydrocephalus. By combining OCT imaging with CRISPR/Cas9 gene editing, scientists can observe how genetic changes affect brain development, CSF flow, and ventricle size in a rapid, living system. The goal is to identify distinct ways different gene backgrounds alter neural progenitor cells and brain fluid dynamics, which could point to targeted therapies in the future.
Why it matters
Potential benefit: If successful, findings may lead to better understanding of hydrocephalus mechanisms and inform new approaches to diagnosis or treatment.
How similar studies have gone: Preliminary work in this model has shown that OCT can detect hydrocephalus-like brain changes in mutant tadpoles, supporting the approach's feasibility; translation to humans remains to be shown.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Deniz, Engin — Yale University
- Study coordinator: Deniz, Engin
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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.