Simple Complex Genetics

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. CHDM aims to facilitate collaboration across disciplines and to develop physiologically relevant tools to study variation found in human patient genomes and pursue questions centered on the signaling roles of vertebrate cilia. 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.