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Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.
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.
Afiliação
  • Junker J; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
  • Lange LM; 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 Clinic Schleswig-Holstein, Luebeck, Germany.
  • Doquenia MLM; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
  • Annuar AA; Department of Neurology, University of Free State, Bloemfontein, South Africa.
  • Avenali M; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
  • Bardien S; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
  • Bahr N; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Ellis M; IRCCS Mondino Foundation, Pavia, Italy.
  • Galandra C; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
  • Gasser T; South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, South Africa.
  • Heutink P; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
  • Illarionova A; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.
  • Kanana Y; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Keller Sarmiento IJ; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Kumar KR; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Lim SY; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
  • Madoev H; German Center for Neurodegenerative Diseases, Tuebingen, Germany.
  • Mata IF; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
  • Mencacci NE; German Center for Neurodegenerative Diseases, Tuebingen, Germany.
  • Nalls MA; German Center for Neurodegenerative Diseases, Tuebingen, Germany.
  • Padmanabhan S; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
  • Shambetova C; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Solle JC; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Tan AH; Translational Neurogenomics, Genomic and Inherited Disease Program, Garvan Institute of Medical Research and UNSW Sydney, Darlinghurst, New South Wales, Australia.
  • Trinh J; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, The University of Sydney, Concord, New South Wales, Australia.
  • Valente EM; 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.
  • Singleton A; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
  • Blauwendraat C; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
  • Lohmann K; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Fang ZH; DataTecnica, Washington, DC, USA.
  • Klein 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.
Mov Disord ; 2024 Jul 30.
Article em En | MEDLINE | ID: mdl-39076159
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.
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos