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

Description

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.

Monogenic Network

The Monogenic Network is comprised of the (i) Data Generation Working Group and the (ii) Data Analysis Working Group, and studies patients and families with known and potential new monogenic causes of Parkinson’s disease.
Learn more about Monogenic Network

Meet the authors

Member

Johanna Junker, MD

University of Luebeck | Luebeck, Germany

Postdoctoral Fellow, Clinician Scientist

Lara Lange, MD

University of Lübeck and University Medical Center Schleswig-Holstein | Bethesda, MD, USA

Link to MJFF Global Genetic PD Project

Eva-Juliane Vollstedt, MD

University of Luebeck | Germany

Associate Professor

Azlina Ahmad-Annuar

University of Malaya | Malaysia

Assistant Professor of Neurology, Neurologist

Micol Avenali, MD, PhD

University of Pavia, Fondazione Istituto Neurologico Nazionale Casimiro Mondino | Pavia, Italy

Professor and Researcher

Soraya Bardien, PhD

Stellenbosch University | Cape Town, South Africa

Member

Melina Ellis

Concord Hospital | Australia

Data Manager

Caterina Galandra, PhD

IRCCS Mondino Foundation

Professor

Thomas Gasser, MD

University of Tübingen | Germany