The Scottish Genomes Partnership

基因组是一套完整的遗传物质，存在于我们身体的每个细胞中，遗传自我们的父母。有时，变化（突变）的发生会导致疾病。如果某人患有某种疾病，现在可以通过读取他们的基因组来确定疾病是否由突变引起，而且这种方法的成本低廉。如果确实如此，科学家可以利用这些信息更好地了解这种疾病，也许有一天可以治疗或治愈它。英国卫生部（DH）成立了自己的公司Genomics England (GeL)，对患有罕见遗传疾病和癌症的家庭或个人进行基因组测序。GeL从英国卫生部获得了1亿英镑，用于对10万个基因组进行测序。MRC希望与北爱尔兰、苏格兰和威尔士的地方政府合作，帮助发展基因组测序，并通过GeL为10万基因组计划做出贡献。我们希望帮助建立一个全英国范围的合作伙伴关系，为患者提供更好更快的结果。该奖项是MRC对苏格兰基因组伙伴关系（SGP）的投资。它的合作伙伴从苏格兰政府获得400万英镑的资金，从苏格兰企业获得350万英镑的资金。这些资金将共同用于(1)支持SGP对1000名罕见病患者（通常也包括他们的家庭）的基因组进行测序；(2)解决如何为研究人员提供适当的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.