Understanding monogenic Parkinson's disease at a global scale.
Johanna JunkerLara M LangeEva-Juliane VollstedtKarisha RoopnarainMaria Leila M DoqueniaAzlina Ahmad AnnuarMicol AvenaliSoraya BardienNatascha BahrMelina EllisCaterina GalandraThomas GasserPeter HeutinkAnastasia IllarionovaYuliia KananaIgnacio J Keller SarmientoKishore Raj KumarShen-Yang LimHarutyun MadoevIgnacio Fernandez MataNiccolò Emanuele MencacciMike A NallsShalini PadmanabhanCholpon ShambetovaJ C SolleAi-Huey TanJoanne TrinhEnza Maria ValenteAndrew SingletonCornelis BlauwendraatKatja LohmannZih-Hua FangChristine Kleinnull nullPublished in: medRxiv : the preprint server for health sciences (2024)
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.