Genetic Associations in Complex Human Diseases

Kári Stefánsson


The ASN is pleased to welcome Kári Stefánsson, MD, to present a state-of-the-art lecture on Friday, October 30, during the plenary session starting at 8 a.m. Dr. Stefánsson is Chief Executive Officer and Chairman of the Board of Directors for deCODE genetics, a biopharmaceutical company in Reykjavik, Iceland, which he co-founded in 1996.

A neurologist, Dr. Stefánsson has helped unravel the links between genes and specific diseases. His work paves the way for development of new tests and treatments for many of today’s most insidious diseases, including cancer and diabetes. His lecture is titled “Genetic Associations in Complex Human Diseases.”

During the 1990s, Dr. Stefánsson was a professor of neurology, neuropathology, and neuroscience at Harvard University and Director of Neuropathology at Beth Israel Hospital in Boston. He left academia to pursue his ambition of studying genetics on a large scale. In 1996, he returned to Iceland to establish the first commercial venture—deCODE genetics— to research population-based molecular genomics. The company’s first focus is to isolate key genes contributing to major public health challenges such as cardiovascular disease and stroke. These genes then provide targets for drugs to treat the diseases.

Dr. Stefánsson and his colleagues search for disease genes by first choosing a target disorder, such as osteoporosis or schizophrenia, whose genetic contribution in unknown. They then identify family groups in which the disease genes are statistically more prevalent than in the general population. Scientists collect blood samples from these individuals and analyze their DNA to identify regions of the genome that are linked to the disease. More than 65 percent of adult Icelanders have allowed deCODE genetics to study their DNA. The company has identified more than 15 variants thus far, each linked to a greater risk of one of a range of disorders.

Aside from DNA-based diagnostics and drug discovery, deCODE is working to offer innovative products and services in bioinformatics, genotyping, structural biology, and clinical development.

Dr. Stefánsson received his medical degree in 1976 and his DrMed in 1986 from the University of Iceland School of Medicine. He completed postdoctoral training in neurology, neuropathology, and neuroscience at the University of Chicago, and is board-certified in neurology and neuropathology in the United States. Dr. Stefánsson has published numerous articles on the genetics of common and complex diseases.