Gene regulatory variation in the developing human brain and its role in neuropsychiatric disorders

涉及数千人的大型遗传研究已经确定了基因组的几个区域，其中DNA变异增加了患精神分裂症等主要精神疾病的风险。然而，这些遗传变异导致这些疾病风险的生物学机制目前尚不清楚。据信，许多这些风险变异是通过改变大脑中附近基因的数量或“表达”而起作用的，而且，这些影响在大脑发育的早期就开始了。为了验证这一假设，我们将检查整个基因组中的DNA变异，并将其与发育中的人类大脑中高度复杂的基因表达测量相关联。这些研究将极大地促进我们对主要精神疾病的理解，这将作为改善这些疾病治疗的基础。

Large genetic studies, involving many thousands of individuals, have identified several regions of the genome where DNA variation increases risk for major psychiatric disorders such as schizophrenia. However, the biological mechanisms by which these genetic variants confer risk to these disorders are currently unknown. It is believed that many of these risk variants operate by changing the amount, or 'expression', of nearby genes in the brain, and, further, that these effects start very early in brain development. To test this hypothesis, we will examine DNA variants across the entire genome and relate these to highly sophisticated measures of gene expression in the developing human brain. These studies will greatly advance our understanding of major psychiatric disorders, which will serve as a basis for improved treatments for these conditions.