Wellcome Trust MRC Human Inducible Pluripotent Stem Cell Initiative

随着对人群中个体的DNA进行测序变得越来越便宜和快捷，我们面临着两个挑战。一是发现个体间基因变异的哪些方面与健康相容，哪些方面与特定疾病的风险增加有关。另一个是，为什么特定的基因突变导致特定的疾病并不总是显而易见的；如果我们知道答案，我们就能更好地设计治疗这种疾病的新方法。一种可以帮助我们应对这些挑战的技术是从健康和患病个体的小样本皮肤或血液中制造干细胞，即诱导多能干细胞（iPS）。通过将iPS细胞的DNA与实验室培养的细胞的行为方式进行比较，我们可以了解DNA的变化是如何导致细胞行为的变化的，并利用这些信息来识别新的疾病机制。我们生成的iPS细胞和相关数据将免费提供给全英国的研究人员和医生，并将促进合作，加速将研究转化为改进的疾病诊断和治疗。

As it becomes cheaper and faster to sequence the DNA of individuals in the population we are faced with two challenges. One is to discover which aspects of the genetic variation between individuals are compatible with good health and which are linked to increased risk of specific diseases. The other is that it is not always obvious why a particular genetic mutation causes a particular disease; if we knew the answer we would be better placed to devise new ways to treat that disease. A technique that can help us meet these challenges is to make stem cells, known as induced pluripotent stem (iPS) cells, from small samples of the skin or blood of healthy and diseased individuals. By comparing the DNA of iPS cells with the way the cells behave when grown in the laboratory we can understand how variation in our DNA results in variation in cell behaviour and use this information to identify new disease mechanisms. The iPS cells and associated data that we generate will be freely available to researchers and doctors throughout the UK and will foster collaborations that will speed up the translation of research into improved diagnosis and treatment of disease.