Enhancer function and dysfunction: molecular mechanisms, genome context, and disease

我们的发育、健康和疾病的复杂性取决于我们基因控制的准确方式。这是由嵌入在我们基因组中95%不包含基因的基因开关--所谓的非编码基因组--驱动的。这些开关的突变可以导致严重的疾病，但我们不知道是如何发生的。该计划旨在研究基因组的三维折叠如何支撑这些遗传开关的工作原理，并提高我们对这些遗传要素的遗传变化如何导致疾病和疾病风险的理解。

The complexity of our development, health and disease is dependent on the precise way that our genes are controlled. This is driven by genetic switches embedded in the 95% of our genome that does not contain genes – the so-called non-coding genome. Mutations in these switches can cause severe disease but we do not understand how. This programme aims to investigate how the three-dimensional folding of the genome underpins how these genetic switches work and to improve our understanding of how genetic changes in these genetic elements contributes to disease and disease risk.