Kahle Lab

Our research is devoted to identifying and characterizing the genes and signaling pathways in the nervous system that regulate ion flux and water homeostasis to impact epithelial transport, cell volume regulation, and neuronal excitability. We also explore how genetically-encoded or maladaptive changes in these genes contribute to human neurological diseases, including hydrocephalus, cerebral edema, and seizures. We necessarily employ a multidisciplinary approach that includes genetics (next generation sequencing of human patients, mouse genetics, and functional genomic screening), physiology, and biochemistry (including phospho-proteomics). A particular focus of the lab is devoted to the study of the functional regulation of the SLC12A family cation-Cl- cotransporters. Our efforts are grounded on the principle that the molecular genetic study of rare Mendelian forms of human disease, and even individual patients, can identity critical nodes within complex physiological pathways that might serve as drug targets for more common forms of these diseases. The overarching goal of our work is to translate advances in basic science into novel therapeutic strategies for the precision care of individual pediatric neurosurgical patients.