- Today, researchers have unveiled the largest ever set of complete genomes from a single population: Iceland. The massive project, carried out by a private company in the country, deCODE genetics, gave new genes to disease risk, an overview of human evolution, and a list of more than 1,000 genes that people can apparently live without .
The project also serves as a model for other countries efforts to sequence the DNA of their people for research on personalized medical care, says study leader Kári Stefánsson, CEO of deCODE. For example, the US plan to sequence the genomes of 1 million Americans over the next few years and use the data to design individualized treatments.
The deCODE study whole genomes is "an amazing piece of work" "was impossible 5 years ago," says human geneticist Daniel MacArthur Massachusetts General Hospital in Boston and the Broad Institute in Cambridge, Massachusetts, who was not involved in the research.
deCODE is controversial Reykjavik company that 19 years ago defined to develop drugs by mining genetic and medical data Icelanders for disease genes. He was unable to obtain access to health records across the country, but has recruited volunteers who now represent over 40% of the population of Iceland's 323,000. The company eventually went bankrupt, reformed, and in late 2012 was bought by Amgen Inc. All along, deCODE has churned papers on genetic variants commonly involved in schizophrenia, diabetes, cancer and other diseases, mostly by comparing the markers scattered along the genomes of healthy individuals and patients.
now, thanks to a cheap sequencing of the genome, deCODE has sequenced the entire genomes of 2,636 Icelanders and combed for much rarer mutations. Based on genealogical records of the country and on the already collected tag data, the company also calculated that among more than 100,000 other people wearing these variants. In a summary document and three related papers published online today in Nature Genetics , deCODE offers a sample of what the data revealed.
The company has found several new disease genes, including mutations in a gene ABCA7 than double the risk of developing Alzheimer's disease among people of European descent . genetic marker studies have shown that gene, but could not nail down specific variants at high risk. Another document estimates the Y chromosome mutation rapidity This analysis suggests that the last common ancestor of mankind traced through the male line has lived there about 239,000 years, nearly 100,000 years, most recently that no had thought. The new rate of Y chromosome mutation will help narrow down the dates of key events in human evolution and migration, said Agnar Helgason of deCODE.
genomes of Iceland has also given a bonus of alleged human knockouts- people who carry two non-functional copies of a gene about 20,000 people. Thus, the cells are not the protein of this gene. These people could shed light on the function of many genes and point to new drug targets if the gene knocked out somehow protects against disease . DeCODE found that a little over 8000 Icelanders brought 1171 knocked-out gene . Many are probably redundant and non-essential or do not relate to health that 3% of the missing genes are involved in the distinctive odors, which may have accounted for the ancient humans, but not modern. But others are potentially interesting, including a torque which may be involved in hearing. The company now plans to ask some of the people lack a functional gene for upcoming clinical trials so that researchers can understand what genes are missing. .
"This is just sort of scratching the surface," says Stefánsson MacArthur says there are probably other conclusions that Amgen maintains itself for today: "It is clearly they do not reveal everything in these documents, "he said
geneticists say large population databases will be essential to the pin. down what part of people carrying potentially dangerous mutations will develop a disease, and if the effects can be mitigated by other genes, for example. This is also a precision target proposed Medicine Initiative of President Barack Obama, which focuses on a genomic study of 1 million Americans. "The benefits are enormous," said MacArthur.
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