The Scottish Genomes Partnership

基因组是我们身体每个细胞中的一套完整的遗传物质，从我们的父母那里遗传来的。有时，变化(突变)会导致疾病。如果某人患有某种疾病，现在读取他们的基因组以确定是否可能是由突变引起的是可能的，也是负担得起的。如果是这样的话，科学家可以利用这些信息更好地了解这种疾病，也许有一天会治疗或治愈它。英国卫生部成立了自己的公司，名为英国基因组学(Gel)，对患有罕见遗传病和癌症的自愿家庭或个人的基因组进行测序。Gel拥有来自英国卫生部的GB 100M，用于对10万个基因组进行测序。MRC希望与北爱尔兰、苏格兰和威尔士的权力下放政府合作，帮助发展基因组测序，并通过凝胶为10万个基因组计划做出贡献。我们希望帮助建立英国范围内的合作伙伴关系，为患者带来更好、更快的结果。这一奖项是MRC对苏格兰基因组合作伙伴关系(SGP)的投资。它的合作伙伴是苏格兰政府提供的400万GB的资金，以及苏格兰企业提供的高达350万GB的资金。这些资金将共同用于：(1)支持SGP对1000名罕见疾病患者(通常还有他们的家人)的基因组进行测序；(2)解决如何向研究人员提供适当访问和使用存储在多个安全站点的复杂数据的挑战。

The genome is the complete set of genetic material in each of the cells of our body, inherited from our parents. Sometimes, changes (mutations) happen that cause disease. If someone has a disease, it’s now possible and affordable to read their genome to see if it might be caused by a mutation. If it has, scientists can use that information to understand the disease better, and perhaps one day treat or cure it. The UK's Department of Health (DH) set up its own company called Genomics England (GeL) to sequence the genomes of consenting families or individuals who suffer from rare genetic diseases and cancers. GeL has £100m from DH England to sequence 100,000 genomes. The MRC wants to work with the Devolved Governments of Northern Ireland, Scotland and Wales to help to develop in genome sequencing too, and to contribute to the 100,000 genomes project through GeL. We hope to help build a UK-wide partnership that can deliver better and faster results for patients.This award is the MRC’s investment in the Scottish Genomes Partnership (SGP). It partners funding of £4,000,000 from the Scottish Government, and up to £3,500,000 from Scottish Enterprise. Together, funds will be used to (1) support SGP's sequencing of 1000 genomes of people with rare diseases (and often also their families) and (2) to address the challenge of how to provide researchers with appropriate access to, and use of, complex data stored across more than one secure site.