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Northwestern University Feinberg School of Medicine
Research

Faculty Profile: Nicholas Katsanis, PhD, professor of Pediatrics

Nicholas Katsanis, PhD

Nicholas Katsanis, PhD, is a professor of Pediatrics at Feinberg. He is also the Valerie and George D. Kennedy Research Professor of Human Genetics, associate chief research officer for translational science and director of the Advanced Center for Translational and Genetic Medicine (ACT-GeM) at the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago.

As director of ACT-GeM, Katsanis oversees the center’s collaborative research efforts which intersect genetics, genomics, cell biology and clinical investigation. Over the course of his career, he has published over 300 peer-reviewed papers; serves on several advisory, editorial, and organizational boards; and has given over 250 lectures in 40 countries.

What are your research interests? 

In a general sense, my interests revolve around rare genetic disorders, specifically the identification of novel genetic disorders and understanding their genetic architecture; using this type of knowledge to inform gene and protein function; and developing new paradigms for empowering and accelerating treatment discovery and implementation.

What is the ultimate goal of your research?  

To become irrelevant. It sounds glib, but if we eventually are able to build a discovery engine that can accelerate diagnosis and treatment for rare genetic diseases, I will be able to put on the slippers and watch from my armchair as we eradicate this odious problem from the planet.

How did you become interested in this area of research?

The roots of my interest are personal. As a pre-teen, I watched as my first cousin perished from a rare genetic disease called San Filippo syndrome. Later on, I also began to understand the horrible impact this calamity had on the overall family (my uncle and aunt divorced a little after my cousin passed away). This was a priming event that pushed me into genetics. Once in it, I became enamored by the discipline. 

How is your research funded?

We have been privileged to have extensive NIH funding for many years. We have also had support from private foundations, donors and corporate sponsors — a very diverse group of individuals who have shared our conviction that our goals are both laudable and pragmatic.

Where has your work been published?

Our group publishes a broad range of papers across the spectrum, from Nature to focused clinical journals. We cherish and celebrate all of them and do not subscribe to vanity “bean counting".

Who inspires you? Who are your mentors?

The list of my mentors is extensive, but the people who truly inspire me are the young people who are dipping their toes into the discovery enterprise. The challenges of the current generation in science, and their expectations, are very different than when I started out. I remain enthralled by the talent I see, and I consider it a true privilege to help polish so many of these “rough diamonds”. Amid the histrionics of our society at present, and the cynicism, my message remains: come on in, the water feels great!

Seriously, this is actually an extraordinary time to pursue discovery. Trust me when I say that it is possible to experience indescribable satisfaction by pursuing a dream while contributing to the spirit of the human race.