Kári Stefánsson, the founder and CEO of deCODE Genetics, now a subsidiary of Amgen, has been elected to the National Academy of Science (NAS). Election to the academy is one of the highest honors in the field of science and a recognition reserved for individuals whose careers are distinguished by original and continuing achievements in their areas of research.  

Kári is widely recognized as one of the most original and influential scientists in the field of human genetics. Through his leadership of deCODE, he has steadily expanded our understanding of the ways in which diversity in the sequence of DNA letters in the genome account for human diversity, including susceptibility to disease. His work has deepened our insights into the nature of genetic diversity, how that diversity is generated and passed on, and how genetic variation affects phenotypes—the physical characteristics and other traits that help to define us as human beings.

Since voting membership in National Academy of Sciences is restricted to US citizens, Kári, a citizen of Iceland, was elected as a foreign associate. That honor is actually more exceptional: NAS elects up to 100 new members annually from the US but chooses no more than 25 foreign associates from the broader global scientific community per year.

A new research paradigm

Under Kári’s leadership, scientists at deCODE have identified numerous rare and common genetic variants that influence disease risk. The list of discoveries includes genes strongly associated with Alzheimer’s disease, schizophrenia, various cancers, heart disease, and many other ailments.

Moreover, deCODE’s impact goes beyond specific discoveries to include a profound influence on the way population genetics is done around the world. DeCODE’s success has been based on gathering comprehensive data on genealogy and population structure, along with genotypes, whole genome sequences, and phenotypic information gathered from health records and other sources. DeCODE also developed the sophisticated computational methods needed to mine all this information in order to identify numerous and meaningful associations.

This methodology, once questioned, has now been embraced as the dominant research paradigm at major institutions around the world. “It is easy to forget that when Kári founded deCODE Genetics, these concepts were considered quite radical and unlikely to succeed,” said Mark Daly, a professor of genetics at Harvard Medical School and co-director of the Broad Institute’s Program in Medical and Population Genetics. “He was both literally and figuratively on a small island of his own.”