Mapping the genetic architecture of global gene and exon expression in the human brain to understand common diseases

影响大脑的疾病很常见，而且往往是毁灭性的。不幸的是，我们对为什么某些人会患上精神分裂症或阿尔茨海默氏症等神经系统疾病知之甚少？s和帕金森？的疾病。然而，在过去的3年里，科学家们已经能够证明，一些人在他们的DNA中遗传了风险因素，这使得他们更有可能发展这些疾病。虽然这是一个惊人的进步，但由于大多数遗传风险因素都不在编码蛋白质的DNA中，我们仍然不知道这些风险因素如何改变大脑中细胞的行为方式，从而导致疾病。没有这类信息，我们就不能开始开发新的和更有效的治疗方法。我们工作的目的是通过调查遗传风险因素如何影响人类大脑中的基因表达来填补这一知识空白，以便我们能够更好地了解神经和精神疾病的原因。我们希望确定DNA中的遗传变异，这些变异不仅会增加患脑部疾病的风险，还会影响已知在疾病中重要的大脑区域的基因表达。通过这种方式，我们可以开始精确定位脑细胞中导致问题的系统或途径，并有望提供导致新治疗方法的基本信息。在这项研究中，我们将使用死者捐赠的人类脑组织进行研究？研究遗传风险因素对大脑不同区域基因表达的数量和类型的影响。我们将使用微阵列技术获得有关人脑组织的详细遗传和基因表达信息。将对产生的大量信息进行仔细分析。这项研究将产生的信息可能对许多研究人员调查各种不同的大脑疾病有用。因此，我们将确保结果尽快公开，同时确保可用于识别个人的信息受到保护。因此，我们希望能够提高对导致大脑疾病的分子和途径的理解，并为帕金森等疾病的新治疗方法提供基础。s或精神分裂症。

Diseases affecting the brain are common and often devastating. Unfortunately, we know relatively little about why certain people suffer from psychiatric conditions like schizophrenia, or neurological conditions like Alzheimer?s and Parkinson?s disease. However, in the past 3 years scientists have been able to show that some individuals inherit risk factors in their DNA, which make them more likely to develop these conditions. Although this has been an amazing step forward, because most of the inherited risk factors are not within the part of the DNA that codes for proteins we still do not understand how these risk factors change the way cells in the brain behave to cause disease. Without this type of information we cannot begin to develop new and more effective treatments. The aim of our work is to fill this gap in knowledge by investigating how inherited risk factors influence gene expression in the human brain so that we can better understand the causes of neurological and psychiatric disease. We hope to identify genetic variants in the DNA which not only increase the risk of having a disease of the brain, but also affect gene expression in brain regions already known to be important in disease. In this way we can start to pinpoint the systems or pathways in brain cells, which are causing the problem and hopefully provide the basic information that will lead to new treatments.In this study we will use human brain tissue that has been donated for research by the deceased?s family to study the effect of inherited risk factors on the quantity and type of gene expression in different areas of the brain. We will use microarray technology to obtain detailed genetic and gene expression information about human brain tissue. The huge amount of information generated will be carefully analysed. The information this study will produce is likely to be of use to many researchers investigating a wide range of different diseases of the brain. Therefore, we will make sure that the results are made publicly available as soon as possible, while at the same time ensuring that information that could be used to identify individuals is protected.Thus, we hope to be able to improve the understanding of the molecules and pathways that cause diseases of the brain and provide the basis for new treatments for diseases like Parkinson?s or schizophrenia.