遗传疾病的细胞模型

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Medizinische Genetik Pub Date : 2021-12-03 eCollection Date: 2021-09-01 DOI:10.1515/medgen-2021-2095
Matthias Rath, Ute Felbor
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引用次数: 0

摘要

最近估计,有数千种罕见病的全球累计患病率至少为3.5%-5.9%[1]。这意味着全世界有数亿人患有罕见病。这些疾病中的大多数仍不完全清楚,无法有效治疗。因此,国际罕见病研究联合会(IRDiRC)的愿景是“让所有患有罕见病的人在就诊后一年内得到准确的诊断、护理和可用的治疗”[2]。一个雄心勃勃的目标是到2027年批准1000种新疗法[2],这将通过提高公众意识和促进协调研究来实现。尽管开发合适的疾病模型是一个重大挑战,通常也是疾病机制研究和药物筛选研究的一个重大瓶颈,但各种新兴技术为将试验台带到床边带来了重大进展的希望。CRISPR/Cas9基因组编辑、诱导多能干细胞(iPSC)技术、类器官培养、芯片上的微流体组织系统、多组学方法的整合等已经将细胞培养模型提升到了一个新的水平。英国统计学家乔治·E·P·博克斯的名言“所有的模型都是错误的,但有些是有用的”,可能在相当长的一段时间内仍然适用于体外模拟复杂的人类疾病。然而,近年来取得了重大进展,其中一部分将在本期中介绍。Best卵黄状黄斑营养不良(BVMD)是一种罕见的单基因疾病的完美例子。Karolina Plössl、Andrea Milenkovic和Bernhard H.F.Weber阐述了从患者来源的iPSC分化的视网膜色素上皮(RPE)细胞如何成为测试实验治疗方案和分析这种BEST1相关视网膜功能障碍的疾病机制的有价值的研究工具-
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来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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