Alnylam Co-Founds UK Biobank Exome Sequencing Consortium (UKB-ESC)

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class="dialog-off-canvas-main-canvas" data-off-canvas-main-canvas> <div id="hero"> <img src="/sites/default/files/2021-08/Genetic%20Sequencing%20Feature.png" /> </div> <div id="content_inner"> <div class="single standard sidebar" > <div class="article_body"> <div class="eyebrown-head"> <p class="mobile-eyebrow"><span class="our-news">Our News</span></p> <div class="share share-mobile"> <div class="social_links-container"> <a href="#" class="icons-action"><h4>Share this:</h4><img src="/sites/default/files/media-icons/icon-share-all.svg" /></a> </div> <div class="social_links"> <a class="facebook internal" href="#"><span class="fa fa-facebook"></span></a> <a class="twitter internal" href="#"><span class="fa-brands fa-x-twitter"></span></a> <a class="linkedin internal" href="#"><span class="fa fa-linkedin"></span></a> <a class="email internal" href="#"><span class="fa fa-envelope-o"></span></a> </div> </div> </div> <h2 class="page_title">Alnylam Co-Founds UK Biobank Exome Sequencing Consortium (UKB-ESC)</h2> <div class="subline"></div> <p class="date">January 18, 2018</p> <a href="/author/alnylam"> <div class="author"> <img src="https://news.alnylam.com/sites/default/files/2019-06/Alnylam_logo_Icon%402x.png" /> <h4 class="name">Alnylam Pharmaceuticals</h4> <h4 class="role"> </h4> </div> </a> <p class="MsoNormal">Alnylam and partners Regeneron, AbbVie, AstraZeneca, Biogen and Pfizer have <a href="https://www.genomeweb.com/sequencing/regeneron-partners-abbvie-alnylam-astrazeneca-biogen-pfizer-sequence-uk-biobank-samples#.YOxKhBNKjUI">announced</a> an agreement with the UK Biobank to form the <strong>UK Biobank Exome Sequencing Consortium (UKB-ESC)</strong>, a pre-competitive consortium which aims to sequence the whole exomes of all 500,000 volunteer participants in the UK Biobank. The sequencing data will be paired with detailed, de-identified medical and health records already within the UK Biobank resource, which also includes imaging, biological and blood samples. <o:p></o:p></p> <p class="MsoNormal">As part of the UK Biobank’s ongoing efforts, profile data is regularly augmented to create an unparalleled research resource and the addition of the exomes that will be sequenced by the UKB-ESC will further enhance the ability of the dataset to be used to link human genetic variations to human biology and disease.<o:p></o:p></p> <p class="MsoNormal">After a brief period of exclusivity, the UKB-ESC will make all sequenced data available to the global health community for research purposes at no cost under the terms of the UKB-ESC charter and the founding principles of the UK Biobank.<o:p></o:p></p> <p class="MsoNormal">The costs associated with whole-exome sequencing are quite high, and the financial commitment made by the UKB-ESC is critical to ensuring that all profiles in the UK Biobank resource have corresponding exome data. Alnylam and the other new collaborators have each committed $10 million to the effort. <o:p></o:p></p> <p class="MsoNormal">"The UK Biobank ESC represents the largest ever effort to use genome sequencing to map the DNA of a group of people.  The scale and richness of the health data provides a truly unique opportunity to understand how variation in the sequence of DNA influences the risk of developing a disease over the course of life.  These powerful insights it will allow us to pinpoint new drug targets that we know are core to human disease and develop RNAi-based medicines with a high degree of confidence that they will be effective treatments for patients," said Paul Noi, Vice President, Discovery and Translational Research, Alnylam Human Genetics.<o:p></o:p></p> <p class="MsoNormal">Alnylam's investment in the UKB-ESC is part of the company’s larger effort and investment in genetics research which aims to accelerate the development of innovative RNAi therapeutics for patients with rare and common diseases. Learn more about the <strong>Alnylam Human Genetics</strong> group <a href="https://www.alnylam.com/our-science/the-science-of-rnai/#alnylamhumangenetics">here</a>.</p> <p class="MsoNormal"><strong>UPDATE: October 26, 2020</strong><o:p></o:p><br /> The UKB-ESC has made whole-exome sequencing data for the first 150,000 participants available to the global health community. Read the UK Biobank press release <a href="https://www.ukbiobank.ac.uk/learn-more-about-uk-biobank/news/uk-biobank-makes-available-new-exome-sequencing-data">here</a>.</p> <p class="MsoNormal"><o:p></o:p></p> <p class="MsoNormal"><strong>Update: July 26, 2022</strong><o:p></o:p><br /> The UKB-ESC has completed it's mission and uploaded the final tranche of exome sequencing data to the UK Biobank database. 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