以团队科学方法在全球范围内揭示单基因帕金森病。

IF 7.4 1区 医学 Q1 CLINICAL NEUROLOGY Movement Disorders Pub Date : 2024-07-30 DOI:10.1002/mds.29925
Johanna Junker MD, Lara M. Lange MD, Eva-Juliane Vollstedt MD, Karisha Roopnarain MD, Maria Leila M. Doquenia MD, Azlina Ahmad Annuar PhD, Micol Avenali MD, Soraya Bardien PhD, Natascha Bahr, Melina Ellis BSc, Caterina Galandra MD, Thomas Gasser MD, FANA, FEAN, Peter Heutink PhD, Anastasia Illarionova PhD, Yuliia Kanana PhD, Ignacio J. Keller Sarmiento MD, Kishore R. Kumar MBBS, PhD, FRACP, Shen-Yang Lim MD, FRACP, Harutyun Madoev MS, Ignacio F. Mata PhD, Niccolò E. Mencacci MD, PhD, Mike A. Nalls PhD, Shalini Padmanabhan PhD, Cholpon Shambetova MD, J. C. Solle MBA, Ai-Huey Tan MD, PhD, FRCP, Joanne Trinh PhD, Enza Maria Valente MD, Andrew Singleton PhD, Cornelis Blauwendraat PhD, Katja Lohmann PhD, Zih-Hua Fang PhD, Christine Klein MD, the Global Parkinson's Genetics Program (GP2)
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引用次数: 0

摘要

背景:直到最近,大约四分之三的单基因帕金森病(PD)研究都是在欧洲/白人血统中进行的,因此严重限制了我们在全球范围内对基因型-表型关系的了解:确定单基因帕金森病的多血统谱系:迈克尔-J.福克斯基金会全球单基因帕金森病项目(The Michael J. Fox Foundation Global Monogenic PD Project)是首个在全球范围内系统性研究单基因帕金森病的项目,该项目联系了报告携带已知帕金森病致病基因中致病变异个体的出版物的作者。相比之下,全球帕金森病遗传学计划的单基因网络则采取了不同的方法,它以医学文献中代表性不足或尚未出现的帕金森病中心为目标:在这篇文章中,我们介绍了在一个合并项目中将这两项工作结合在一起的情况,该合并项目产生了一个全球单基因帕金森病队列,并建立了一个可持续的基础设施,以确定单基因帕金森病的多基因谱,并对改变单基因帕金森病渗透性和表现性的因素进行研究:这项工作表明,基于团队科学方法的未来研究具有重要价值,可产生全面的全球相关结果。© 2024 The Author(s).运动障碍》由 Wiley Periodicals LLC 代表国际帕金森和运动障碍协会出版。
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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Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale

Background

Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype–phenotype relationships at a global scale.

Objective

To identify the multi-ancestry spectrum of monogenic PD.

Methods

The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes. In contrast, the Global Parkinson's Genetics Program's Monogenic Network took a different approach by targeting PD centers underrepresented or not yet represented in the medical literature.

Results

In this article, we describe combining both efforts in a merger project resulting in a global monogenic PD cohort with the buildup of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expressivity of monogenic PD.

Conclusions

This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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来源期刊
Movement Disorders
Movement Disorders 医学-临床神经学
CiteScore
13.30
自引率
8.10%
发文量
371
审稿时长
12 months
期刊介绍: Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.
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