SFB 992: Medical Epigenetics (MEDEP) - From Basic Mechanisms to Clinical Applications

现代生物科学已经进入了一个后基因组时代，突出的是在表观遗传学领域的开创性发现。正常发育、细胞类型识别和疾病需要对染色质和表观遗传控制有更好的了解。DNA序列本身不足以解释遗传生理和病理的所有方面，最近表观遗传学研究的突破彻底改变了对正常和异常发育的认识。此外，技术的进步使得表观遗传特征的全基因组定位成为可能，例如DNA甲基化谱或组蛋白修饰标记。此外，通过染色质修饰酶的小分子抑制剂来对抗病理功能障碍的新方法已经成为现实。因此，为了更好地诊断和治疗人类疾病，需要将表观遗传控制机制和全基因组染色质谱转化为临床应用。CRC 992“医学表观遗传学”（MEDEP）为表观遗传学研究提供了这样一个翻译程序。来自弗莱堡大学医学中心、弗莱堡大学和马克斯普朗克免疫生物学和表观遗传学研究所的科学家们组成了一个联盟，解决了从基本表观遗传学原理的识别、人类疾病相关动物模型中表观遗传学途径的验证到表观遗传学原理到临床应用的转化等问题。核心基础设施为表观遗传谱的生成和分析提供了深度测序/生物信息学能力，并为表观遗传靶点的小分子抑制剂的合理药物设计提供了平台。MEDEP的一项重要资产是互补和跨学科的方法，在基础研究和临床研究之间架起桥梁，并建立一个交流、合作和指导青年科学家的网络。

Modern bioscience has entered a post-genomic era that is highlighted by seminal discoveries in the area of epigenetics. Normal development, cell type identities and disease require a better understanding of chromatin and of epigenetic control. The DNA sequence alone is not sufficient to explain all aspects of heritable physiology and pathology and the recent breakthroughs in epigenetic research have revolutionised insights into normal and perturbed development. In addition, technological advances now allow the genome-wide mapping of epigenetic signatures, such as DNA methylation profiles or histone modification marks. Furthermore, new approaches to combat pathological dysfunction through small molecule inhibitors of chromatin modifying enzymes have become a reality. Therefore, a better diagnosis and treatment of human disease necessitates the translation of epigenetic control mechanisms and genome-wide chromatin profiles to clinical applications.The CRC 992 “Medical Epigenetics”, MEDEP, provides such a translational program for epigenetic research. Scientists from the University Freiburg Medical Center, the University of Freiburg and the Max Planck Institute of Immunobiology and Epigenetics team up in a consortium that addresses questions ranging from the identification of basic epigenetic principles, validation of epigenetic pathways in relevant animal models of human disease to the translation of epigenetic principles to clinical applications. Core infrastructures provide deep-sequencing/bioinformatics capacity for the generation and analysis of epigenetic profiles and a platform for rational drug design of small molecule inhibitors of epigenetic targets. A major asset of MEDEP is the complementary and interdisciplinary approach to bridge between basic and clinical research and to build a network of exchange, collaborations, and mentoring of young scientists.