在全球范围内应对一种疾病,全球帕金森氏症遗传学计划,GP2:新一代的机会。

IF 8.1 1区 生物学 Q1 GENETICS & HEREDITY
American journal of human genetics Pub Date : 2025-09-04 Epub Date: 2025-08-19 DOI:10.1016/j.ajhg.2025.07.014
Cornelis Blauwendraat, Alastair J Noyce, Ignacio F Mata, Laurel A Screven, J Solle, Sonya B Dumanis, Ekemini A Riley, Maria Teresa Periñan, Njideka Okubadejo, Christine Klein, Huw R Morris, Andrew B Singleton
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引用次数: 0

摘要

在研究中需要更多的多样性是一个公认的问题,特别是在遗传学和基因组学领域。虽然通过从代表性不足的人群中招募和排序研究参与者来解决这个问题似乎很简单,但实施这样的努力在操作上是复杂的。关键的考虑因素包括确保公平、建设能力和创建一个可持续的研究集体,通过合作解决研究中的地方和全球问题。在这里,我们提供了一个路线图,详细介绍了全球帕金森病遗传学计划(GP2)如何解决帕金森病(PD)遗传学研究缺乏多样性的问题,并反思了5年来的进展。GP2旨在成为促进主题招募、样本收集、数据生成、协调和共享的全球中心。它也作为一个集中的目标发现中心PD遗传学全球。GP2的基本原则集中在透明度、数据和发现的民主化、培训和职业支持、提供(或产生)可操作的结果,以及创建一个全球PD研究人员的功能集体。GP2正在与全球275个研究小组合作。截至2025年5月,有来自265,000名受试者的数据和样本。我们讨论了在这一过程中吸取的经验教训,并强调了我们认为该计划将在下一阶段瞄准的新机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Tackling a disease on a global scale, the Global Parkinson's Genetics Program, GP2: A new generation of opportunities.

The need for more diversity in research is a widely recognized problem, especially in the genetics and genomics fields. While resolving this problem seems straightforward by recruiting and sequencing research participants from underrepresented populations, implementing an effort like this is complex operationally. Key considerations include ensuring equity, building capacity, and creating a sustainable research collective that works collaboratively to address local and global questions in research. Here, we provide a roadmap detailing how the Global Parkinson's Genetics Program (GP2) is tackling the lack of diversity in Parkinson disease (PD) genetics research and also reflect on 5 years of progress. GP2 aims to be a global hub facilitating subject recruitment, sample collection, data generation, harmonization, and sharing. It also acts as a centralized target discovery hub for PD genetics worldwide. The underlying tenets of GP2 center on transparency, the democratization of data and discovery, training and career support, providing (or generating) actionable results, and creating a functional collective of PD researchers worldwide. GP2 is working with 275 research groups worldwide. There are data and samples from 265,000 subjects currently committed to the program as of May 2025. We discuss the lessons learned in this process and highlight what we view as the emerging opportunities that the program will aim to target over the next period.

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来源期刊
CiteScore
14.70
自引率
4.10%
发文量
185
审稿时长
1 months
期刊介绍: The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.
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