Það er eitt sem þýðir alls ekki fyrir þig, sem er að fela þig frá vinum eða lífinu sjálfu. Following his internship at the National Hospital of Iceland, he went to the University of Chicago to work under Barry Arnason (coincidentally a Canadian of Icelandic descent). „Ég vildi að ég tryði á þennan guð þótt ekki væri nema vegna þess að þá vissi ég að það hefði verið vel tekið á móti þér hinum megin við móðuna miklu.“ Þetta ritar Kári Stefánsson forstjóri Íslenskrar erfðagreiningar í einlægu og fallegu bréfi sem hann ritar til systur …  In addressing common psychiatric disorders and cognitive processes and traits across a population, this body of work has contributed to the present understanding of these conditions not as discrete phenotypes but as related through the disruption of fundamental cognitive functions. Athugið.  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. Henry T Greely, "Iceland's plan for genomics research," op. In the mid-2000s the company brought several of its own compounds into clinical development but did not have the financial resources to continue their development after its insolvency and restructuring in 2009. Smartland hefur þó ekki fengið það staðfest og það tekið fram að Arion banki er eigandi hússins.  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. Í Morgunblaðinu í vikunni skrifar Guðni heila grein, sem meira og minna er tileinkuð snilligáfu Kára og frammistöðu hans í sjónvarpsþættinum hjá Gísla Marteini á föstudaginn.  Given the disease and mortality rates from breast and prostate cancer associated with BRCA2, the availability of this information should enable the prevention and early detection of hundreds of cancers and save dozens of lives.. : IS1992158707 Spuni frá Miðsitju Mm.  This was beyond the scope of an academic laboratory, and he made contact with venture capital firms to find out if such an enterprise could be funded as a private company. Nú gerðist það að Kári Stefánsson var mættur og sat þungbúinn eins og Óðinn með eitt auga og hafði heitið því að segja ekkert í þættinum. 10:10. Although publishing steadily, Stefansson was frustrated by the pace of progress and often by not knowing whether the proteins he was characterizing were involved in causing disease or the product of the disease process.  The IHD was never built, its scientific and business rationale largely superseded by the response of Icelanders to contribute their data one by one. 183.3k Followers, 103 Following, 60 Posts - See Instagram photos and videos from Stefán Karl Stefánsson (@stefanssonkarl) This "rare-for-common" approach is now being followed by many drug companies. Kari has 1 job listed on their profile.  The deCODE team has made contributions to the understanding of genetic variation influencing a range of other diseases and traits including glaucoma; menarche; essential tremor; tuberculosis susceptibility; height; gene expression; hair, eye and skin pigmentation; aortic valve stenosis; rhinosinusitis; and dozens of others. cit. Fremur hefði átt gefa skanna og setja hann upp. Studying patients linked by extended genealogies should therefore make it possible to more efficiently find the inherited component of any phenotype or trait, even using low-resolution markers. , deCODE has discovered a number of sequence variants linked to risk of prostate cancer (as well as a protective variant), breast cancer, melanoma and basal cell carcinoma, thyroid cancer, urinary bladder cancer, ovarian cancer, renal cell cancer, gastric cancer, testicular cancer, lung cancer, and clonal hematopoiesis. How Stefansson's population strategy transformed thinking in the field and gene discovery by the mid-2000s in, A list of deCODE's key publications, on virtually all of which Stefansson is senior author, are listed by year on the company's website at, In 1999, Icelandic anthropologist Gisli Palsson already noted the success of the deCODE model: Gisli Palsson and Paul Rabinow, "Iceland: The case of a national genome project,", Jocelyn Kaiser, "Population databases boom from Iceland to U.S.,", This database is overwhelmingly complete going back to the, Details of how the privacy protection system works in Gulcher, A good early description of how people are asked to participate and how their data is used in research is on pp 7-9 of, By 2004, the government and deCODE had effectively stopped all work on the IHD and moved on. Guðni Ágústsson, fyrrverandi ráðherra, heldur ekki vatni yfir framgöngu Kára Stefánssonar síðustu vikur. On the advent of "precision medicine" as a term, Luke Timmerman, "What’s in a Name? 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. Kári Stefánsson. An early partnership with local software developer Friðrik Skúlason created a computerized national genealogy database that linked all living Icelanders and included the majority of people who have ever lived in Iceland over the past eleven hundred years. With that data, Stefansson and his colleagues at Amgen believed that genomics could be transformative to drug development in a way that was not possible with only SNP-chip and GWAS data. Kári Stefánsson. As Icelanders they were almost by definition related, and due to the national pastime of genealogy those relationships could be established.  This finding is being used in drug discovery and development at Amgen. Stefansson had tried for many years to convince the Icelandic Ministry of Health that this was a serious public health issue that deCODE's data could address at virtually no cost, and it was but one of the clearest-cut of many such possible precision medicine applications to healthcare in Iceland. This population approach has served as a model for national genome projects around the world and contributed to the realization of several aspects of precision medicine.. But it was fiercely opposed by a group of local academics and doctors as well as many international bioethicists.  The version used in research replaces names with encrypted personal identifiers overseen by Iceland's Data Protection Commission. , Yet Stefansson's principal goal has always been to use the genome to inform the development of better drugs. These tests are using more markers and new algorithms to build upon the risk variants and approach pioneered in Iceland for these same diseases. There he completed residencies in neurology and neuropathology, and in 1983 joined the faculty. View Kari Stefansson’s profile on LinkedIn, the world’s largest professional community. From its inception, virtually everything in Stefansson's strategy was unproven or controversial. in 1976 and his Dr. med. Stefansson was born in 1949 in Reykjavik, Iceland. Axton's comments are from his remarks at deCODE's 20th anniversary conference, held in Reykjavik on 30 September 2016, available in video on the company website at, A list of all of deCODE's major publications since 1997 are on the company's website at, Recent lists of highly cited scientists at, A Helgason et al., " An Icelandic example of the impact of population structure on association studies,", P Sulem et al., " Identification of a large set of rare complete human knockouts,", Stefansson presented an early explanation of the 'broad but rigorous' approach to the definition of phenotypes powered by datamining at the, A Kong et al., "Selection against variants in the genome associated with educational attainment,", F Zink et al., "Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly,", TE Thorgeirsson et al., "A variant associated with nicotine dependence, lung cancer and peripheral arterial disease,", This discovery attracted significant scientific and media attention. // Kári Stefánsson. Kári útskrifaðist sem stúdent frá Menntaskólanum í Reykjavík 1970. 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.  By the time Human Genome Project and Celera published their draft sequences of the human genome in 2001, his vision for population genetics had already taken shape and was yielding early discoveries of sequence variation linked to disease, human evolution and population history.  These have demonstrated through basic genetics that while certain site cancers clustered in families, others cluster in a non-site specific way, pointing to common molecular causes. Skógrækt í eigin auga. As Peter Donnelly put it, “the number of countries now investing millions in similar resources is an astonishing testament to the perspicacity of his vision.”. It was constructed with 5000 microsatellite markers and highlighted 104 corrections to the Human Genome Project's draft assembly of the genome, immediately increasing the accuracy of the draft from 93 to 99%.  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. 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. Years before precision medicine became a common term, he wanted to provide its foundation : to find and validate drug targets rooted in disease pathways rather than rely on trial and error in medicinal chemistry, and to be able to test and prescribe drugs for patients likely to respond well. 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. Following on Iceland's success, countries now pursuing or planning national genome projects of varying scale, scope and rationale include the UK (via the UK Biobank as well as Genomics England and the Scottish Genomes Partnership separately); the US (All of Us as well as the Million Veteran Program), Australia, Canada, Dubai, Estonia, Finland, France, Hong Kong, Japan, Netherlands, Qatar, Saudi Arabia, Singapore, South Korea, Sweden, and Turkey. Inhibitors as potential treatments go to Iceland to set up operations and resigned their positions at Harvard the following.. Icelanders they were almost by definition related, and a major early focus of the Neuregulin gene... Published in Nature genetics. [ 14 ] from several American venture capital funds to found deCODE genetics. 115... 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