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EMBL/EMBO Joint Conference 2000

Kari Stefánsson, deCode Genetics, Reykjavik, Iceland

Biography

Kari Stefánsson is currently the President, Chairman of the Board and CEO of deCode Genetics. Dr. Stefánsson received his MD and Dr Med at the University of Iceland. He trained in neurology and neuropathy at the University of Chicago where he subsequently served on the faculty for ten years. He was a professor of neurology, neuropathology, and neuroscience at the University of Chicago until 1993. From 1993 to 1996 Dr. Stefánsson was a member of the neurology, neuropathy and neuroscience department at Harvard University.

Abstract

From the sequence of our genes to medical utility

The mapping of genes for common diseases has proven a rather difficult task. This is probably in part because most of the common diseases are rather complex from a genetic standpoint. Another potential explanation for the difficulties is that the approaches that have been taken in the gene mapping have been somewhat flawed; most of the published attempts at mapping genes in common/complex diseases have been dependent on sibpair analysis which is not a particularly powerful approach.

I will discuss an approach to the mapping of genes in common/complex diseases that includes the use of population-based patient lists and a nation wide genealogic database that reaches centuries back in time and is applied to determine relationships between the members on the list. This approach is also based on using rather distantly related patients, up to 8th degree relatives, in order to take maximum advantage of the genetic power available. Furthermore, this approach uses broad (but rigorous) definitions of the phenotypes when the patient lists are assembled but the mapping is only done with patients from the lists who have the parts of the broadly defined phenotype that are passed between generations. I will give several examples of successes in mapping genes in complex diseases including in psoriasis, myocardial infarction, osteoarthritis, stroke, osteoporosis, and schizophrenia.