Kari Stefansson

Biosketch

Kari Stefansson, M.D., Dr. Med. is founder and CEO of Reykjavik-based deCODE genetics. In Iceland he has pioneered the use of population-scale genetics to understand variation in the sequence of the human genome. His work, published in more than 600 scientific papers, has focused on how genomic diversity is generated and on the discovery of sequence variants impacting susceptibility to common diseases. The population approach he has advanced in Iceland has served as the model for national genome projects around the world and contributed to the realization of several aspects of precision medicine, including to the discovery and development of therapeutic targets and compounds for Amgen. Prior to founding deCODE in 1996 he was professor of neurology, neuropathology and neuroscience at Harvard and had previously held faculty positions in neurology, neuropathology and neurosciences at the University of Chicago, from 1983-1993. Dr. Stefansson has received some of the highest honors in biomedical research and genetics, including the including the Sackler Lecture at MIT, the European Society of Human Genetics Award, the Anders Jahre Award, the American Alzheimer’s Association’s Inge Grundke-lqbal Award, the Federation of European Biomedical Societies’ Sir Hans Krebs Medal, and the American Society of Human Genetics (ASHG) William Allan Award. His work has been recognized by major international publications and bodies including Time, Newsweek, Forbes, BusinessWeek and the World Economic Forum. He holds Iceland’s highest honor, the Order of the Falcon, and in 2019 was elected the first president of the Nordic Society of Human Genetics and Precision Medicine.

Research Interests

Dr. Stefansson's research has been focused on figuring out how human diversity can be explained by diversity in the sequence of the genome as well as how new diversity in the sequence is generated through de novo mutations, recombinations and gene conversions. He designed and launched the first large initiative in population genetics of human disease and health that since then has been copied all over the world. He has participated in making a large number of discoveries of variants in the sequence of the human genome that affect the risk of diseases such as heart attack, all kinds of cancer, Alzheimer's disease, autism, schizophrenia, ADHD, autoimmun thyroiditis, nasal polyps, type 2 diabetes, nicotine dependence and the list goes on. Some of these discoveries have changed in fundamental ways how we view diseases. One example is atrial fibrillation that was considered to be an ion channel disease before but the discoveries of Dr. Stefansson and his colleagues have shown that it is caused mostly by genes encoding cytoplasmic components such as the sarcomere. Hence, it is best viewed as a sign of an atrial cardiomyopathy that calls for different approach to treatment. Recently Dr. Stefansson has broadened his approach to his study of human disease and health by adding population data on RNA seq and proteomics on the top of data on diversity in sequence.