Many infants are born with excessive fluid in their brains, known as hydrocephalus, affecting 1/1000 live births. Our understanding of hydrocephalus is incomplete, which makes designing effective treatments much more difficult. Human genomic studies identified mutated genes in patients with congenital hydrocephalus, yet we do not know how they cause hydrocephalus.
In Deniz Lab, we developed frogs as a rapid and effective model to study human congenital hydrocephalus genes. We use optical coherence tomography imaging to analyze CNS development, CNS ciliary function, and cerebrospinal fluid circulation dynamics in frogs. We can visualize CSF flow in real-time, vastly improving our candidate gene analysis derived from our patients. This model can lead to new insights into how hydrocephalus forms, providing an exciting avenue for understanding the disease process and designing new treatment options.