Mutants among Us: A Conversation with Dr. Katsanis

January 3, 2022
Research Archives

By Alex Chang, published in our 2017-18 issue

Mutant. When one hears the word, many images might come to mind. Humans transformed by radiation into alien-like beings. Talking animals. Perhaps one envisions flies with legs sprouting from their heads like out-of-place antennas. With such distinctive images of mutants, it is not a surprise that we often associate the term mutant with a negative connotation. However, right here at Duke University, the Center for Human Disease Modeling (CHDM), led by the charismatic Jean and George Brumley Professor of Developmental Biology Nicholas Katsanis, is determined to redefine the term “mutant” and change the perception that all mutants are bad.

In 2000, the Human Genome Project was officially complete, ushering in a new age of research in biology. Scientists identified mutations at unprecedented rates, linking specific mutations to certain diseases, and creating to a new blueprint for modern medicine. For Dr. Nicholas Katsanis, then an assistant professor at Johns Hopkins University, genetic mutations were a fascinating topic. However, while novel research that linked mutations to disease constantly seemed to be emerging, Dr. Katsanis saw a phenomenon that interested him far more—certain mutations that would normally lead to disease would be silenced if an individual possessed another mutation. Fascinatingly, having this other mutation, termed a “compensatory” mutation, conferred some form of protection for this individual against another mutation in the genome.

Despite the wealth of new research, Dr. Katsanis still found a huge knowledge gap. In the post-genome area, a new model of research was necessary to link basic research to clinical research. Motivated to fill in this gap, in 2009, Dr. Katsanis moved to Duke University and opened the Duke Center for Human Disease Modeling (CHDM), a research facility dedicated to investigating genetic variation and disease. While competition among labs was a healthy motivating factor, Dr. Katsanis was not a believer of competition within the lab and made it among his first priorities to create a sense of community amongst the researchers in his lab.

Despite increased skepticism from scientists in the field about the new center, the CHDM immediately made seminal breakthroughs in the world of genetics. Modeling human mutations in zebrafish, the CHDM quickly became recognized as a world leader in systematizing functional testing of genes. Shedding additional light on phenomena like pleiotropy and compensatory mutations, the CHDM’s research helped the scientific community transition away from the outdated model that disease X is caused by a particular gene Y. Continuing to develop methods and tools that identify beneficial mutations, the CHDM’s most recent research has shown that the suppression of certain genes can lead to therapeutic benefits.

When asked what the CHDM will accomplish next, Dr. Katsanis is vague in his response. As far as he and the 30-plus researchers at the center are concerned, the only certainty is that their research will continue to follow their motivation to change the world for the better. While Dr. Katsanis and his center seem to have already accomplished a lifetime of work, any notion of retiring early or burning out is completely out of question. “Science is a state of existence,” Dr. Katsanis says emphatically, “It is who I am.”

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