Understanding monogenic Parkinson's disease at a global scale

Abstract

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 global scale. The first systematic approach to embrace monogenic PD worldwide, the Michael J Fox Foundation Global Monogenic PD (MJFF GMPD) Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD causing genes. In contrast, the Global Parkinson’s Genetics Program’s (GP2) Monogenic Network took a different approach by targeting PD centers not yet represented in the medical literature. Here, we describe combining both efforts in a “merger project” resulting in a global monogenic PD cohort with build-up of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expression of monogenic PD. This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This research was supported in part by the Intramural Research Program of the NIH, National Institute on Aging (NIA), National Institutes of Health, Department of Health and Human Services; project number ZO1 AG000534, as well as the National Institute of Neurological Disorders and Stroke. GP2 is funded by the Aligning Science Across Parkinson's (ASAP) initiative and implemented by The Michael J. Fox Foundation for Parkinson's Research (https://gp2.org).

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I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

There is no overall GP2 Ethics approval. All institutions participating in GP2 have obtained approval from their local Ethics committees which is a prerequisite to be part of the GP2 project. All Ethics approvals and patient information sheets and consent forms were reviewed by GP2's Compliance working group in order to ensure that sample and data sharing is allowed.

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Data Availability

Anonymized data are available upon reasonable request from any qualified investigator to the authors.

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