Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.
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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 C, 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)
Аннотация
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.