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.
About Kristopher Kahle
Kristopher T. Kahle, M.D., Ph.D. is an Assistant Professor of Neurosurgery, Pediatrics, and Cellular & Molecular Physiology at Yale School of Medicine, and Director of Neonatal and Congenital Anomaly Neurosurgery in the Division of Pediatric Neurosurgery. Dr. Kahle received his undergraduate degree in philosophy from the University of Chicago. He completed his M.D. and Ph.D. degrees at Yale in the N.I.H. Medical Scientist Training Program under the mentorship of Ph.D. advisor and human geneticist Rick Lifton. Dr. Kahle completed neurosurgical residency and chief residency at the Massachusetts General Hospital in Boston. After residency, Dr. Kahle completed a clinical fellowship in pediatric neurosurgery at Boston Children’s Hospital (BCH) and was Instructor at Harvard Medical School. Dr. Kahle completed a postdoctoral research fellowship with geneticist Steve Elledge (2015 Lasker Award) and physiologist David Clapham at Harvard University. Dr. Kahle’s primary clinical focus includes disorders of neurodevelopment (congenital and secondary hydrocephalus, arachnoid cysts, vascular malformations (cavernous and arterio-venous malformations), Chiari malformations, spina bifida, and tethered spinal cord) and tumors of the pediatric brain and spinal cord. Dr. Kahle was trained in minimally invasive neuroendoscopy under Dr. Benjamin Warf and Al Cohen at Harvard. Dr. Kahle is an attending physician at Yale-New Haven Hospital and the Yale-New Haven Children’s Hospital.