Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale

Author:

Junker Johanna12ORCID,Lange Lara M.12,Vollstedt Eva‐Juliane1,Roopnarain Karisha3ORCID,Doquenia Maria Leila M.1,Annuar Azlina Ahmad4,Avenali Micol56ORCID,Bardien Soraya78ORCID,Bahr Natascha1ORCID,Ellis Melina910ORCID,Galandra Caterina511,Gasser Thomas1213ORCID,Heutink Peter1213,Illarionova Anastasia13ORCID,Kanana Yuliia1,Keller Sarmiento Ignacio J.14,Kumar Kishore R.101516ORCID,Lim Shen‐Yang17ORCID,Madoev Harutyun1,Mata Ignacio F.18ORCID,Mencacci Niccolò E.14ORCID,Nalls Mike A.1920,Padmanabhan Shalini21ORCID,Shambetova Cholpon1,Solle J. C.22ORCID,Tan Ai‐Huey17ORCID,Trinh Joanne1ORCID,Valente Enza Maria611ORCID,Singleton Andrew2023,Blauwendraat Cornelis2023ORCID,Lohmann Katja1,Fang Zih‐Hua13,Klein Christine1ORCID,

Affiliation:

1. Institute of Neurogenetics, University of Luebeck Luebeck Germany

2. Department of Neurology University Clinic Schleswig‐Holstein Luebeck Germany

3. Department of Neurology University of Free State Bloemfontein South Africa

4. Department of Biomedical Science Faculty of Medicine, University of Malaya Kuala Lumpur Malaysia

5. Department of Brain and Behavioral Sciences University of Pavia Pavia Italy

6. IRCCS Mondino Foundation Pavia Italy

7. Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences Faculty of Medicine and Health Sciences, Stellenbosch University Cape Town South Africa

8. South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University Cape Town South Africa

9. Northcott Neuroscience Laboratory, ANZAC Research Institute Concord New South Wales Australia

10. Faculty of Medicine and Health, University of Sydney Sydney New South Wales Australia

11. Department of Molecular Medicine University of Pavia Pavia Italy

12. Department for Neurodegenerative Diseases Hertie Institute for Clinical Brain Research, University of Tuebingen Tuebingen Germany

13. German Center for Neurodegenerative Diseases Tuebingen Germany

14. Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine Chicago Illinois USA

15. Translational Neurogenomics, Genomic and Inherited Disease Program, Garvan Institute of Medical Research and UNSW Sydney Darlinghurst New South Wales Australia

16. Molecular Medicine Laboratory and Neurology Department Concord Repatriation General Hospital, The University of Sydney Concord New South Wales Australia

17. Division of Neurology, Department of Medicine, and the Mah Pooi Soo and Tan Chin Nam Centre for Parkinson's and Related Disorders Faculty of Medicine, University of Malaya Kuala Lumpur Malaysia

18. Genomic Medicine Institute, Cleveland Clinic Cleveland Ohio USA

19. DataTecnica Washington DC USA

20. Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA

21. Discovery and Translational Research, The Michael J. Fox Foundation for Parkinson's Research New York New York USA

22. Department of Clinical Research The Michael J. Fox Foundation for Parkinson's Research New York New York USA

23. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health Bethesda Maryland USA

Abstract

AbstractBackgroundUntil 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.ObjectiveTo identify the multi‐ancestry spectrum of monogenic PD.MethodsThe 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.ResultsIn 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.ConclusionsThis 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.

Publisher

Wiley

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