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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 Klein
AbstractThe 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.

History

Journal

npj Parkinson's Disease

Volume

9

Article number

100

Pagination

1-5

Location

Berlin, Germany

ISSN

2373-8057

eISSN

2373-8057

Language

eng

Publication classification

C1.1 Refereed article in a scholarly journal

Issue

1

Publisher

Springer Nature