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 global scale. The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD (MJFF GMPD) Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes. In contrast, the Global Parkinson’s Genetics Program’s (GP2) Monogenic Network took a different approach by targeting PD centers not yet represented in the medical literature. Here, we describe combining both efforts in a “merger project” resulting in a global monogenic PD cohort with build-up of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expression of monogenic PD. This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results.

中文翻译：

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在全球范围内了解单基因帕金森病

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，从而严重限制了我们对全球范围内基因型与表型关系的了解。迈克尔·J·福克斯基金会全球单基因帕金森病 (MJFF GMPD) 项目是全球第一个采用单基因帕金森病的系统方法，该项目联系了一些出版物的作者，这些出版物报告了携带已知帕金森病致病基因致病变异的个体。相比之下，全球帕金森氏症遗传学计划 (GP2) 单基因网络采取了不同的方法，针对尚未在医学文献中出现的帕金森病中心。在这里，我们描述了将两项努力结合在一个“合并项目”中，产生一个全球单基因帕金森病队列，并建立一个可持续的基础设施，以确定单基因帕金森病的多祖先谱，并能够研究改变单基因帕金森病外显率和表达的因素。这项努力证明了基于团队科学方法的未来研究的价值，以产生全面且全球相关的结果。