Researches the fundamental pathomechanisms of human genetic disease
Nicholas Katsanis is the Director of the Center for Human Disease Modeling and Professor of Cell Biology and Brumley Distinguished Professor of Pediatrics at Duke University. The Center for Human Disease Modeling (Center) develops and deploys a broad range of in vitro and in vivo tools to understand the fundamental pathomechanisms of human genetic disease. \
The American Society of Human Genetics (ASHG) has named him as the 2017 recipient of the Curt Stern Award. This annual award, named for the late pioneering geneticist Curt Stern, PhD, recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade.
Dr. Katsanis obtained his BSc from University College London, and his PhD from Imperial College London. He completed his postdoctoral work at Baylor College of Medicine in Houston, where he first worked on the genetics of Down syndrome and then initiated his studies on the genetic and molecular basis of Bardet- Biedl syndrome. He worked for seven years at the Institute of Genetic Medicine at Johns Hopkins University in Baltimore, with appointments in the departments of ophthalmology, molecular biology, and genetics. He joined the faculty of Duke in 2009.
His laboratory is attempting to identify the causative genes of Bardet-Biedl syndrome. To elucidate why the syndrome results in severe symptoms in some patients and only mild symptoms in others, his lab is developing animal models to understand how an individual’s genome can influence the clinical presentation of this and other genetic diseases. His group is credited with early work showing that monogenic disorders are much more complicated than was previously believed. Bardet-Biedl syndrome is now a model for oligogenic disease, a category between classical monogenic and complex traits.
Katsanis was also a part of a large genome-wide association study, in which new loci associated with age-related macular degeneration were identified. Advanced age-related macular degeneration (AMD) is a neurodegenerative disease and the leading cause of vision loss among the elderly. This information will help identify genetic risk factors for the AMD and may lead to the development of more effective treatments.
In 2010, he was honored by the American Society of Nephrology (ASN) with its Young Investigator Award.