About 40% of the pediatric hydrocephalus has unknown etiology. Using mouse and rat genetic models that develop different types of congenital hydrocephalus, we aim to understand essential molecular and cellular mechanisms for the normal ventricular system development and function.
In collaboration with Drs. Rolf Stottmann (Human Genetics), Kenneth Campbell (Developmental Biology), and Diana Lindquist (Radiology), we are currently studying new mouse and rat hydrocephalus models with genetic mutations in cilia genes, the L1cam gene, and etc. We aim to identify:
- The function of motile cilia in the neonatal brain development
- Molecular mechanisms for the CSF production/absorption/circulation system
- Responsible gene mutations for human congenital hydrocephalus, utilizing molecular biology techniques such as mouse genetics, CRISPR/Cas9 genome editing system, RNA-seq analysis, and exome sequencing and advanced imaging tools including diffusion tensor imaging and contrast-enhanced MRI.
Collaborators: Rolf Stottmann, PhD, Kenneth Campbell, PhD, Diana Lindquist, PhD
We plan to launch multidisciplinary research projects around human congenital hydrocephalus as well as tuberous sclerosis complex.