11/8/2023 0 Comments Decode genetics news![]() ![]() The mutations that deCode detected in each major disease were responsible for too few cases to support the development of widely used diagnostic tests or blockbuster drugs. And because most of the mutations are rare, they are extremely hard to find. That leaves thousands of different mutations, each very rare in the population, as the probable culprit. Natural selection seems to be much more efficient than expected at ridding the population of dangerous genes, even of those that act well after the age of reproduction. But the mutations that deCode and others detected in each disease turned out to account for a small fraction of the overall incidence. Many researchers expected that just a handful of genetic mutations would explain most cases of any given major disease. Its approach was to identify the mutations first in Icelanders and then to confirm them in other populations.Ī lab at deCode Genetics, which found that the genetic nature of human disease was far more complex than anyone thought. ![]() The company’s researchers discovered mutations linked to schizophrenia, heart disease, diabetes, prostate cancer and many other illnesses. Stefansson quickly realized that Iceland’s excellent medical records, combined with the genealogical information available on its close-knit population, provided a fine test bed for seeking the roots of genetically complex diseases like cancer, diabetes and schizophrenia.ĭeCode quickly became the leader in the worldwide race to identify the causes of common disease. After the human genome sequence was achieved in 2003, Dr. Kari Stefansson, a research neurologist who worked at the University of Chicago and at Harvard. Based in Reykjavik, Iceland, it was founded in 1996 by Dr. The company’s demise suggests that the medical promise of the human genome may take much longer to be fulfilled than its sponsors had hoped. Scientists at deCODE genetics are determined to work towards more ethnically balanced sequencing cohorts in the future.DeCode Genetics, a pioneering company that used the Icelandic population as its guinea pigs in detecting disease-causing mutations, filed for bankruptcy on Tuesday. However, the imbalance in the ethnic mix of those contributing sequences to this study as well as to other studies already published is unfortunate from both societal and scientific point of views. This study is likely to represent the largest set of whole genome sequenced individuals of African and South-Asian origin. The scientists also found a large group of participants who can trace their ancestry mostly to Africa and South Asia. The scientists determined that 85% of the participants could trace most of their ancestry to the British Isles. Participants in the UK biobank are of diverse genetic ancestry and have forefathers from most of the countries of the world. Credit: deCODE geneticsįurthermore, scientists at deCODE also report on the association of variants that were not identified through whole exome sequencing with diseases and other phenotypes. Halldorsson discuss the first report from the world's most ambitious sequencing project. "Data of this type and quantity are going to revolutionize our ability to identify and characterize intergenic sequences of importance to human diversity, be it to risk of disease and response to treatment or some other attributes," said Kari Stefansson the founder of deCODE and one of the authors of the paper.ĭr. However, when the 1% of the genome with sequences that are best conserved are examined only 13% of them are coding exons. It has long been held that coding exons are the regions most important to human survival. The assumption is that regions that are intolerant to sequence diversity are important to human survival and procreation. This large dataset allowed the scientists to separate regions that are tolerant to large diversity in sequence from those that are not. It is however likely that some of the theoretically possible variants are incompatible with life. The scientists at deCODE genetics found 600 millions SNPs and indels in these 150 thousand genomes corresponding to 7% of those that can theoretically occur in the human genome. This is the first report from the largest whole genome sequencing effort to date where scientists from deCODE genetics and from the Wellcome Trust Sanger Institute are set to sequence 500 thousand whole genomes in three years. ![]()
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