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

Autor: Junker J; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.; Department of Neurology, University Clinic Schleswig-Holstein, Luebeck, Germany., Lange LM; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.; Department of Neurology, University Clinic Schleswig-Holstein, Luebeck, Germany., Vollstedt EJ; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Roopnarain K; Department of Neurology, University of Free State, Bloemfontein, South Africa., Doquenia MLM; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Annuar AA; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Avenali M; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; IRCCS Mondino Foundation, Pavia, Italy., Bardien S; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, South Africa., Bahr N; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Galandra C; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Gasser T; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.; German Center for Neurodegenerative Diseases, Tuebingen, Germany., Heutink P; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.; German Center for Neurodegenerative Diseases, Tuebingen, Germany., Illarionova A; German Center for Neurodegenerative Diseases, Tuebingen, Germany., Kanana Y; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Keller Sarmiento IJ; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Kumar KR; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.; Translational Neurogenomics, Genomic and Inherited Disease Program, Garvan Institute of Medical Research and UNSW Sydney, Darlinghurst, New South Wales, Australia.; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, The University of Sydney, Concord, New South Wales, Australia., Lim SY; 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., Madoev H; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Mata IF; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., Mencacci NE; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Nalls MA; DataTecnica, Washington, DC, USA.; 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., Padmanabhan S; Discovery and Translational Research, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA., Shambetova C; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Solle JC; Department of Clinical Research, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA., Tan AH; 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., Trinh J; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Valente EM; IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Singleton A; 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.; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA., Blauwendraat C; 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.; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA., Lohmann K; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Fang ZH; German Center for Neurodegenerative Diseases, Tuebingen, Germany., Klein C; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Oct; Vol. 39 (10), pp. 1868-1873. Date of Electronic Publication: 2024 Jul 30.
DOI: 10.1002/mds.29925
Abstrakt: Background: 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.
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.
(© 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
Databáze: MEDLINE
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