Main Text
Dear colleagues,
It is a pleasure to introduce Nico Katsanis as this year’s recipient of the ASHG Stern Award. The Stern Award honors the memory of Curt Stern, a great geneticist whose work in Drosophila provided insight into fundamental concepts, such as crossing over and mosaicism, relevant to all species, including humans.
The work of Nico Katsanis has similarly changed our understanding of human genetics theory and of human genetic disease in fundamental ways. There is a common thread to his productive and informative work. This is that genetic questions are best studied by a combination of genetic assays that are then complemented and confirmed through the study of all putative disease-associated alleles in a relevant functional cellular or animal model.
Born in Athens, Greece, Nico went to university in London, in the United Kingdom, and then moved to Baylor to work with Jim Lupski, and from there he went to Hopkins. He subsequently joined the faculty at Duke University in North Carolina, where he is now the Jean & George Brumley Distinguished Professor of Developmental Biology.
Over the last decade, Nico Katsanis has changed our understanding of human genetics by his groundbreaking work on nonmotile cilia. Katsanis’s work established the concept of ciliopathies, which is now an integral part of our thinking about human genetic disease phenotypes. Similarly, this work has been informative for the concept of oligogenic inheritance and the ways in which this should be studied. It is in this context that we encounter Nico’s deep conviction that the functional effect of an allele should never be inferred but should always be studied in a functional paradigm, preferably in the context of other epistatically interacting alleles. It is this rigorous and systematic approach to providing functional readouts to answer biological and genetic questions that sets Nico Katsanis apart as a true pioneer and as one of the most influential researchers of human genetics of his generation.
From 2009 onward, Katsanis took this functional concept to the next level when he developed the Center for Human Disease Modeling at Duke. The mission of this center is to develop and implement biological assays to understand genetic variation discovered in patients. The Center for Human Disease Modeling has provided relevant biological and functional readouts for an impressively large number of genetic disease discoveries. Working with clinicians and scientists around the globe, this functional genetics approach has had an enormous impact on the field of rare-disease gene discovery and on understanding pathogenesis. The striking element here is that apart from using many established paradigms, the Katsanis lab will readily develop novel assays and approaches if the question requires this. One particularly informative example is the work published in Nature in 2012 on dissecting the role of various genes falling within the 16p11.2 copy-number variant (CNV) region. Overexpression of each of 29 human genes in zebrafish and further work in other systems established KCTD13 as a major driver of the neuroanatomical phenotypes seen in human patients with CNVs of this region.
It is for his numerous discoveries, and especially for establishing these rigorous functional paradigms, that Nico Katsanis is a worthy recipient of the 2017 Stern Award.