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

Junker J 1 , Lange LM 1 , Vollstedt EJ 1 , Roopnarain K 2 , Doquenia MLM 1 , Annuar AA 3 Show all authors , Avenali M 4 , Bardien S 5 , Bahr N 1 , Ellis M 6 , Galandra C 4 , Gasser T 7 , Heutink P 7 , Illarionova A 8 , Kanana Y 1 , Keller Sarmiento IJ 9 , Kumar KR 10 , Lim SY 11 , Madoev H 1 , Mata IF 12 , Mencacci NE 9 , Nalls MA 13 , Padmanabhan S 14 , Shambetova C 1 , Solle JC 15 , Tan AH 11 , Trinh J 1 , Valente EM 16 , Singleton A 17 , Blauwendraat C 17 , Lohmann K 1 , Fang ZH 8 , Klein C 1 , and the Global Parkinson's Genetics Program (GP2)

Affiliations 

  • 1 Institute of Neurogenetics, University of Luebeck, Luebeck, Germany
  • 2 Department of Neurology, University of Free State, Bloemfontein, South Africa
  • 3 Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 4 Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
  • 5 Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
  • 6 Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia
  • 7 Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
  • 8 German Center for Neurodegenerative Diseases, Tuebingen, Germany
  • 9 Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA
  • 10 Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia
  • 11 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
  • 12 Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA
  • 13 DataTecnica, Washington, DC, USA
  • 14 Discovery and Translational Research, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA
  • 15 Department of Clinical Research, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA
  • 16 IRCCS Mondino Foundation, Pavia, Italy
  • 17 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
Mov Disord, 2024 Jul 30.
PMID: 39076159 DOI: 10.1002/mds.29925

Abstract

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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