„Kári Stefánsson var mættur og sat þungbúinn eins og Óðinn með eitt auga og hafði heitið því að segja ekkert í þættinum. Since then it has operated as a wholly owned but quite independent subsidiary, applying its capabilities across Amgen's drug development pipeline while maintaining local control over its data and science. [119]  deCODEme included polygenic risk scores built principally on its discoveries to gauge individual predisposition to dozens of common diseases, an approach followed by 23andMe and others. [21] The business model was to fund this effort through partnerships with pharmaceutical companies who would use the discoveries to develop new drugs. [144]  He has also received Iceland's highest honor, the Order of the Falcon. [47], At each successive stage of technology for reading the genome – from microsatellite markers to SNPs to whole-genome sequencing – this participation is unique as a proportion of the population and has also consistently comprised one of the largest collections of genomic data in the world in absolute terms. Smartland hefur þó ekki fengið það staðfest og það tekið fram að Arion banki er eigandi hússins. In a 2017 interview Iceland's former president Vigdis Finnbogadottir captured a common view: "If Icelanders can contribute to the health of the world, I’m more than proud. cit. Hundreds of people have been able to learn that they are carriers and the National Hospital has built up its counseling and other services to help those decide how they wish to use this information to protect their health. [101] Another very large study, analyzing clinical and whole-genome sequence data from some 300,000 people, found more than a dozen relatively rare variants corresponding to elevated cholesterol levels. Kári Stefánsson (or Kari Stefansson; born 6 April 1949) is an Icelandic neurologist and founder and CEO of Reykjavik-based biopharmaceutical company deCODE genetics.In Iceland he has pioneered the use of population-scale genetics to understand variation in the sequence of the human genome. [37] By mid-decade, even former critics acknowledged that what Stefansson was building in Iceland through fully consented individual participation and datamining was indeed an important example to prospective genome projects in the UK, US, Canada, Sweden, Estonia and elsewhere, and to the foundation of new institutions like the Broad Institute. This is the first created using WGS data, and like the previous maps has been made openly available to the global scientific community. He is the model for Hrólfur Zóphanías Magnússon, director of the company CoDex, in CoDex 1962 by Sjón. What is often overlooked is that Kári and his colleagues at deCODE provided the template for this discovery engine. ... Brottnám á auga (enucleation, evisceration og excentration) á Íslandi á árunum 2004-2018. Kári er Hrútur og stendur vel undir nafni. Neil Risch and Kathleen Merikangas, "The future of genetic studies of complex human diseases,", Nicholas Wade, "SCIENTIST AT WORK/Kari Stefansson; Hunting for Disease Genes In Iceland's Genealogies,", Announcement of deCODE starting operations on the front page of, An early description of the discovery model and process by Stefansson and Gulcher when they still planned to build the IHD, in "Population genomics: laying the groundwork for genetic disease modeling and targeting,", A good early outline of Stefansson's vision and the business model in Stephen D. Moore, "Biotech firm turns Iceland into a giant genetics lab,", Gulcher, J, Helgason A, Stefansson, K, "Genetic homogeneity of Icelanders,". Kári Stefánsson was born in 1949 in Iceland. [44] By 2003, with some 95% of people asked to participate agreeing to do so, more than 100,000 were taking part in the study of one or more of three-dozen diseases. [28] Supported by a large majority of the public and members of parliament, the Act on Health Sector Database authorizing the creation of such a database and its licensing for commercial use was passed in 1998. „Kári Stefánsson var mættur og sat þungbúinn eins og Óðinn með eitt auga og hafði heitið því að segja ekkert í þættinum. [17] As an Icelander, Stefansson knew the country's passion for genealogy first hand and had grown up with and trained in its national health system. Using bioinformatics and statistics, deCODE could then combine and mine all this data together for correlations between variation in the sequence and any disease or trait, in a nearly hypothesis-free manner. Ég er viss um að Kári var hvorki glaður né reiður þetta kvöld, hann var staðráðinn í að beita öllum sínum töfrum og nota vitið meira en hláturinn,“ ritar Guðni. [41] The version used in research replaces names with encrypted personal identifiers overseen by Iceland's Data Protection Commission. [55]  A second recombination map published in 2010 utilized 300,000 SNPs and revealed different recombination hotspots between women and men, as well as novel genetic variations that affect recombination rate, and that do so differently in European and African populations. [100]  This finding is being used in drug discovery and development at Amgen. Michael D Lemomick, "The Iceland experiment: How a tiny island nation captured the lead in the genomic revolution,", The breadth of impact of the model and Finnbogadottir quote in Catherine Offord, "Learning from Iceland’s Model for Genetic Research,", David P Hamilton, "Genetic genealogy hits the big time,", Nicholas Wade, "Company offers genome assessments,", deCODEme and other tests apart from 23andMe are no longer offered, but contemporaneous examples of deCODE discoveries being foundational to personal genome scans examining validated risk for type 2 diabetes and coronary artery disease can be seen in G Palomaki et al., "Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review,", An example of deCODE's polygenic risk tests and the others it offered in company press release, ", Amit V Khera et al, "Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease,", See Stephen D Moore, "Biotech firm turns island into a giant genetics lab," op. Moreover, it is easy to forget that when Kári founded deCODE Genetics 21 years ago, these concepts were considered quite radical and unlikely to succeed. [16] Siblings share half their genomes; but cousins one eighth, second cousins one thirty-second, etc. Þykir Guðna svo mikið til Kára koma og þá sérstaklega hugmynda hans um landbúnaðarkerfið að hann vill setja hann fyrir nefnd um hvernig efla eigi Matvælalandið Ísland. For human genetics. [ 115 ] 2019, Stefansson 's strategy was unproven controversial! Blaðinu með því að segja ekkert í þættinum with Kari Stevenson and others Zeneca and others you may know 20... For new industries and markets on a small island of his group leaders and asked him test... Followed by many drug companies `` [ 50 ], by far the longest deepest... Research ; What is often overlooked is that discoveries are applied to trying to create pedigrees connecting genetic! 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