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Understanding monogenic Parkinson's disease at a global scale.

Authors :
Junker J
Lange LM
Vollstedt EJ
Roopnarain K
Doquenia MLM
Annuar AA
Avenali M
Bardien S
Bahr N
Ellis M
Galandra C
Gasser T
Heutink P
Illarionova A
Kanana Y
Keller Sarmiento IJ
Kumar KR
Lim SY
Madoev H
Mata IF
Mencacci NE
Nalls MA
Padmanabhan S
Shambetova C
Solle J
Tan AH
Trinh J
Valente EM
Singleton A
Blauwendraat C
Lohmann K
Fang ZH
Klein C
Source :
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Apr 09. Date of Electronic Publication: 2024 Apr 09.
Publication Year :
2024

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.

Details

Language :
English
Database :
MEDLINE
Journal :
MedRxiv : the preprint server for health sciences
Publication Type :
Academic Journal
Accession number :
38529492
Full Text :
https://doi.org/10.1101/2024.03.12.24304154