An Integrated Framework of Epigenomics and Human Disease

描述(由申请人提供)：在后基因组时代，我们能够以系统的全基因组方式研究精神疾病的表观基因组学。实验和计算技术的进步使表观遗传学领域发生了革命性的变化。迄今为止，人类基因组和其他模式生物的测序和注释为在基因组的其他功能特征的背景下研究基因组甲基化的形式和功能提供了丰富的资源。然而，现有的基因组计划在很大程度上忽略了基因组的甲基化模式，尽管已知即使部分去甲基化也会改变基因组的稳定性和基因的调节表达，但对基因组甲基化模式的组织知之甚少。拟议研究计划的目的是识别和表征MDD受试者选定的脑区域中MDD的表观遗传学特征，并识别表观遗传学模式与对照的差异。通过这种方式，我们的目标是发现可以在疾病研究中用作附加成分的基因组元素，因为它们可能是MDD等多因素疾病的风险因素。

DESCRIPTION (provided by applicant):In the post genomic era we are in the position to investigate the epigenomics of psychiatric illnesses in a systematic genome-wide fashion. Advances in experimental and computational technology have revolutionized the field of epigenetics. The sequencing and annotation of the human genome and other model organisms to date has provided a rich resource to study the form and function of genomic methylation in context of other functional features of the genome. However, the existing genome projects have largely ignored genomic methylation patterns, and while it is known that even partial demethylation alters the stability of the genome and the regulated expression of genes, little is known of the organization of genomic methylation patterns. The aim of the proposed research plan is the identification and characterization of the epigenetic profile of MDD in selected brain regions from MDD subjects and to identify differences in epigenetic patterns relative to controls. In this way we aim to discover genomic elements that may be used as an added component in disease studies, as they may be risk factors for such multifactorial diseases, like MDD.