["Mitochondrial medicine" in the light of the fourth national plan for rare diseases (PNMR4): The example of the MITOMICS project].

IF 0.6 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
M S-medecine Sciences Pub Date : 2025-02-01 Epub Date: 2025-03-03 DOI:10.1051/medsci/2025016
Clémence Guillermain, Stéphane Tirard, Sylvie Bannwarth, Vincent Procaccio
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引用次数: 0

Abstract

The aim of the MITOMICS project is to establish a clinical database of patients diagnosed with mitochondrial diseases, combined with a « multiomics » integrated approach in order to gain a better understanding of the molecular mechanisms underlying these diseases, and ultimately, to offer better patient care. The MITOMICS project thus contributes to the consolidation of a French "mitochondrial medicine", a notion that deserves to be examined. With the upcoming launch of the fourth national plan for rare diseases, it is an example of the study and management of rare and ultrarare diseases in France. This article traces the emergence of mitochondrial medicine since the early 1960s. It presents its main characteristics (genocentrism, strong techno-dependence), as well as its major technical and theoretical limitations, with a view to developing personalized mitochondrial medicine for the years to come.

[根据第四个国家罕见病计划(PNMR4)的“线粒体医学”:以MITOMICS项目为例]。
MITOMICS项目的目的是建立一个诊断为线粒体疾病的患者的临床数据库,结合“多组学”综合方法,以便更好地了解这些疾病的分子机制,并最终提供更好的患者护理。因此,MITOMICS项目有助于巩固法国的“线粒体医学”,这是一个值得研究的概念。随着即将启动的第四个国家罕见病计划,这是法国罕见病和超罕见病研究和管理的一个例子。这篇文章追溯了自20世纪60年代初以来线粒体医学的出现。它提出了其主要特点(种族灭绝,强烈的技术依赖性),以及其主要的技术和理论局限性,以期在未来几年开发个性化的线粒体医学。
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
M S-medecine Sciences
M S-medecine Sciences 医学-医学:研究与实验
CiteScore
0.80
自引率
14.30%
发文量
182
审稿时长
4-8 weeks
期刊介绍: m/s offers high-quality review articles in French, covering all areas of biomedical and health research, in a monthly magazine format (10 issues / year). m/s is read by the whole French-speaking community, in France but also in Belgium, Switzerland, Canada, Morocco, Algeria, Tunisia etc. m/s is not a primary publication, and thus will not consider unpublished data. Most articles are invited by the Editors, but spontaneous proposals are welcomed. Each issue combines news and views on the most recent scientific publications, as well as broadly accessible and updated review articles on a specific topic, and essays on science and society, history of science, public health, or reactions to published articles. Each year, m/s also publishes one or two thematic issues focused on a research topic of high interest. All review articles and essays are peer-reviewed.
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