The deCODE genetics enterprise, founded in 1996 in Reykjavík, transformed population-scale genetics by leveraging comprehensive national genealogies to identify human genome variations. Led by neurologist Kári Stefánsson, the project shifted focus from analyzing protein samples in deceased patients to mapping inherited components of common diseases among living, related populations within the Icelandic national health system.
Academic Foundation and Early Training
Born in 1949 in Reykjavík, Kári Stefánsson pursued his medical education at the University of Iceland, earning his M.D. in 1976 and a Dr. med. in 1986. Following an internship at the National Hospital of Iceland, he completed residencies in neurology and neuropathology before joining the faculty at the University of Chicago in 1983. In 1993, he became a professor of neurology, neuropathology, and neuroscience, while serving as the division chief of neuropathology at Beth Israel Hospital.
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Stefánsson originally focused his research on neurodegenerative diseases, specifically investigating brain tissue from deceased patients. Frustrated by the limitations of protein biology and the difficulty of determining whether proteins were disease markers or causative agents, he pivoted toward genomic research. He recognized that mapping genetic variations shared among patients could provide clearer targets for diagnostics and drug development. He reasoned that Iceland, with its small, homogeneous population and extensive genealogical records, offered an ideal environment for linking shared ancestry to specific disease phenotypes.
Industrial-Scale Research at deCODE
In 1996, Stefánsson secured $12 million in venture capital to establish deCODE genetics, resigning from his academic posts in 1997. He developed an industrial-scale model that integrated medical data, genealogical records, and DNA samples from the Icelandic public. By applying bioinformatics to this aggregated information, he identified sequence variants linked to various traits and diseases. Since 2010, he has held a professorship in medicine at the University of Iceland, maintaining his leadership role at the company through 2025.
Fast facts
- Born: 1949, Iceland
- Education: University of Iceland
- Primary Affiliation: deCODE genetics (1996-2025)
- Membership: National Academy of Sciences
- Award: Sir Hans Krebs Medal (2016)
- Award: Anders Jahre's Award for Medical Research (2009)
- Award: Order of the Falcon (2022)
- Award: ASHG Lifetime Achievement Award (2017)
Questions readers ask
What is the core methodology of deCODE genetics?
The company uses a population-scale approach to combine national genealogical data with medical and genomic information to identify correlations between sequence variations and disease.
What academic roles has Kári Stefánsson held?
He served as a professor of neurology, neuropathology, and neuroscience at various institutions and is a professor of medicine at the University of Iceland.
Achievements
- Sir Hans Krebs Medal — 2016
- Order of the Falcon — 2022
- Held posts at University of Iceland and deCODE genetics
