Nicholas Katsanis, Ph.D.

Professor, Duke University

SFARI Investigator, SFARI Scientific Review Board Website

Nicholas (Nico) Katsanis obtained his bachelor’s degree in genetics from the University College London in 1993 and his doctorate degree from Imperial College London in 1997. While at Imperial College London, he worked with Elizabeth Fisher on the genetics of Down syndrome. He completed his postdoctoral work in the laboratory of James Lupski in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston and transitioned his studies to Bardet-Biedl syndrome.

In 2002, Katsanis 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.

In 2009, he moved to Duke University to establish the Center for Human Disease Modeling (CHDM), of which he is the director, and leads the Duke Task Force 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.

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. He serves on several advisory, editorial and organizational boards and has delivered over 150 lectures in 20 countries.

Read More

Funded Projects

SFARI Funded Publications

Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus. Männik K., Arbogast T., Lepamets M., Lepik K., Pellaz A., Ademi H., Kupchinsky Z.A., Ellegood J., Attanasio C., Messina A., Rotman S., Martin-Brevet S., Dubruc E., Chrast J., Lerch J., Qiu L.R., Laisk T., The 16p11.2 European Consortium, The Simons VIP Consortium, The eQTLGen Consortium, Henkelman R.M., Jacquemon S., Herault Y., Lindgren C.M., Peterson H., Stehle J.C., Katsanis N., Kutalik Z., Nef S., Draganski B., Davis E.E., Mägi R., Reymond A.
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling. Snijders Blok L., Madsen E., Juusola J., Gilissen C., Baralle D., Reijnders M.R., Venselaar H., Helsmoortel C., Cho M.T., Hoischen A., Vissers L.E., Koemans T.S., Wissink-Lindhout W., Eichler E., Romano C., Van Esch H., Stumpel C., Vreeburg M., Smeets E., Oberndorff K., van Bon B.W., Shaw M., Gecz J., Haan E., Bienek M., Jensen C., Loeys B.L., Van Dijck A., Innes A.M., Racher H., Vermeer S., Di Donato N., Rump A., Tatton-Brown K., Parker M.J., Henderson A., Lynch S.A., Fryer A., Ross A., Vasudevan P., Kini U., Newbury-Ecob R., Chandler K., Male A., D.D.D. Study, Dijkstra S., Schieving J., Giltay J., van Gassen K.L., Schuurs-Hoeijmakers J., Tan P.L., Pediaditakis I., Haas S.A., Retterer K., Reed P., Monaghan K.G., Haverfield E., Natowicz M., Myers A., Kruer M.C., Stein Q., Strauss K.A., Brigatti K.W., Keating K., Burton B.K., Kim K.H., Charrow J., Norman J., Foster-Barber A., Kline A.D., Kimball A., Zackai E., Harr M., Fox J., McLaughlin J., Lindstrom K., Haude K.M., van Roozendaal K., Brunner H., Chung W., Kooy R.F., Pfundt R., Kalscheuer V., Mehta S.G., Katsanis N., Kleefstra T.
Subscribe to our newsletter and receive SFARI funding announcements and news