Richard Doll Seminar: The journey from variants in the sequence of the genome and clinical phenotypes

Kari Stefansson MD, PhD is a founder and CEO of the Icelandic biotechnology company deCODE genetics. He pioneered the use of population genetics in the study of human diversity, how human diversity is generated through diversity in the sequence of the human genome and how diversity in the sequence of the genome is generated through de novo mutations, recombinations and gene conversions. The population approach he advanced in Iceland has served as a model for large scale genome projects around the world. His work has been published in over 700 scientific papers and includes discoveries of variants in the sequence of the germline genome that affect the risk of a large number of common diseases (ca. 100). Before founding deCODE in 1996 Dr. Stefansson was a professor of neurology, neuropathology and neuroscience at Harvard Medical School and before that he held the same positions at the University of Chicago, Pritzker School of Medicine.

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