Patient-derived cells - an irreplaceable tool for research of reduced penetrance in movement disorders.

IF 0.8 4区生物学 Q4 GENETICS & HEREDITY

Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI:10.1515/medgen-2022-2133

Philip Seibler, Aleksandar Rakovic

引用次数: 0

Abstract

Movement disorders comprise a clinically, pathologically, and genetically heterogeneous group of diseases associated with the phenomenon of reduced penetrance. Penetrance refers to the likelihood that a clinical condition will occur when a particular genotype is present. Elucidating the cause of reduced penetrance may contribute to more personalized medicine by identifying genetic factors that may prevent individuals from developing disease. Therefore, patient material becomes an irreplaceable resource in this approach. It is needed to identify genetic modifiers of the disease in the first place and to subsequently elucidate underlying mechanisms in endogenous human cell models that provide the entire genetic background.

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患者来源的细胞-运动障碍降低外显率研究的不可替代的工具

运动障碍包括与外显率降低现象相关的临床、病理和遗传异质性疾病组。外显率是指当某一特定基因型存在时，某一临床状况发生的可能性。阐明外显率降低的原因可能有助于通过识别可能阻止个体发展疾病的遗传因素来实现更个性化的医疗。因此，患者材料成为该方法中不可替代的资源。首先需要确定疾病的遗传修饰因子，然后阐明提供整个遗传背景的内源性人类细胞模型的潜在机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Medizinische Genetik Medicine-Genetics (clinical)

CiteScore

1.40

自引率

9.10%

发文量

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.