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Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)
Version 2 2024-06-19, 23:30
Version 1 2024-02-21, 04:21
journal contribution
posted on 2024-06-19, 23:30 authored by Lara Lange, Micol Avenali, Melina Ellis, Anastasia J Illarionova, Ignacio Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter R Heutink, Kishore Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew SingletonAndrew Singleton, Niccolo Mencacci, Katja Lohmann, Christine KleinAbstractThe Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson’s disease (PD) and to improve our understanding of already identified genetic causes, such as reduced penetrance and variable clinical expressivity of known disease-causing variants. We aim to perform short- and long-read whole-genome sequencing for up to 10,000 patients with parkinsonism. Important features of this project are global involvement and focusing on historically underrepresented populations.
