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DOI 10.1101/2024.03.12.24304154

Медицинская библиотека · medRxiv : the preprint server for health sciences · 2024

Understanding monogenic Parkinson's disease at a global scale.

Junker Johanna, Lange Lara M, Vollstedt Eva-Juliane, Roopnarain Karisha, Doquenia Maria Leila M, Annuar Azlina Ahmad, Avenali Micol, Bardien Soraya, Bahr Natascha, Ellis Melina, Galandra Caterina, Gasser Thomas, Heutink Peter, Illarionova Anastasia, Kanana Yuliia, Keller Sarmiento Ignacio J, Kumar Kishore R, Lim Shen-Yang, Madoev Harutyun, Mata Ignacio F, Mencacci Niccolò E, Nalls Mike A, Padmanabhan Shalini, Shambetova Cholpon, Solle J, Tan Ai-Huey, Trinh Joanne, Valente Enza Maria, Singleton Andrew, Blauwendraat Cornelis, Lohmann Katja, Fang Zih-Hua, Klein Christine, Global Parkinson’s Genetics Program (GP2)

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Аннотация

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.

Для цитирования: Junker Johanna, Lange Lara M, Vollstedt Eva-Juliane, Roopnarain Karisha, Doquenia Maria Leila M, Annuar Azlina Ahmad, Avenali Micol, Bardien Soraya, Bahr Natascha, Ellis Melina, Galandra Caterina, Gasser Thomas, Heutink Peter, Illarionova Anastasia, Kanana Yuliia, Keller Sarmiento Ignacio J, Kumar Kishore R, Lim Shen-Yang, Madoev Harutyun, Mata Ignacio F, Mencacci Niccolò E, Nalls Mike A, Padmanabhan Shalini, Shambetova Cholpon, Solle J, Tan Ai-Huey, Trinh Joanne, Valente Enza Maria, Singleton Andrew, Blauwendraat Cornelis, Lohmann Katja, Fang Zih-Hua, Klein Christine, Global Parkinson’s Genetics Program (GP2). Understanding monogenic Parkinson's disease at a global scale.. medRxiv : the preprint server for health sciences. 2024. DOI: 10.1101/2024.03.12.24304154.
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