Nicholas Katsanis

Director, Center for Human Disease Modeling

Duke University



Nicholas Katsanis obtained his BSc from University College London in 1993 and his PhD from Imperial College London in 1997 where he first worked on the genetics of Down syndrome. He completed his postdoctoral work in the laboratory of Dr. Lupski at Baylor College of Medicine in Houston and transitioned his studies to Bardet-Biedl syndrome. In 2002, he established his independent research lab at the Institute of Genetic Medicine, John Hopkins University, where he led studies that unified several allied conditions under the ciliopathy umbrella. Dr. Katsanis demonstrated that Bardet-Biedl syndrome is caused by centrosomal/basal body dysfunction, establishing that dysfunction at the primary cilium can give rise to a large group of disorders with both clinical and genetic overlap (the ciliopathy model). In 2009, he moved to Duke University to establish the Center for Human Disease Modeling (CHDM), where he is the Director; this structure aims to facilitate collaboration across disciplines and to develop physiologically relevant tools to study variation found in human patient genomes. As part of that effort, Dr. Katsanis leads the Taskforce for Neonatal Genomics. This multidisciplinary group of physicians and basic scientists strives to synthesize genomic and biological data for the faster diagnosis, improved/focused clinical care, and potential therapeutic paradigms, for infants and neonates with genetic conditions. In parallel, the CHDM pursues questions centered on the signaling roles of vertebrate cilia, the translation of signaling pathway defects on the causality and possible treatment of ciliary disorders, and the dissection of second-site modification phenomena as a consequence of genetic load in a functional system. In recognition of his work, Dr. Katsanis was awarded the Young Investigator Award from the American Society of Nephrology in 2009, the E. Mead Johnson Award from the Society for Pediatric Research in 2012, the 2017 Curt Stern Award from the American Society of Human Genetics and has delivered several Distinguished lectures. Dr. Katsanis is a Professor in the Departments of Cell Biology and Pediatrics and holds the Jean and George Brumley Distinguished Professorship. He has published over 250 research papers, reviews, and book chapters, serves on several advisory, editorial, and organizational boards and has delivered over 150 lectures in 20 countries. Dr. Katsanis has mentored more than 40 predoctoral and postdoctoral trainees and has demonstrated a significant commitment to training physician-scientists.