以团队科学方法在全球范围内揭示单基因帕金森病。
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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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)","doi":"10.1002/mds.29925","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>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.</p>\n </section>\n \n <section>\n \n <h3> Objective</h3>\n \n <p>To identify the multi-ancestry spectrum of monogenic PD.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>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.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>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.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results. © 2024 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\n </section>\n </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":null,"pages":null},"PeriodicalIF":7.4000,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.29925","citationCount":"0","resultStr":"{\"title\":\"Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale\",\"authors\":\"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)\",\"doi\":\"10.1002/mds.29925\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>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.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Objective</h3>\\n \\n <p>To identify the multi-ancestry spectrum of monogenic PD.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>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.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>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.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusions</h3>\\n \\n <p>This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results. © 2024 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\\n </section>\\n </div>\",\"PeriodicalId\":213,\"journal\":{\"name\":\"Movement Disorders\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":7.4000,\"publicationDate\":\"2024-07-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.29925\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/mds.29925\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/mds.29925","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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