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Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio Juan Keller Sarmiento, Ai Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, J Solle, Claire Wegel, Zih‐Hua Fang, Peter Heutink, Kishore R. Kumar, Shen‐Yang Lim, Enza Maria Valente, Mike A. Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Katja Lohmann, Christine Klein, the Global Parkinson’s Genetic Program (GP2)

2023npj Parkinson s Disease36 citationsDOIOpen Access PDF

Abstract

The 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.

Topics & Concepts

PenetranceDiseaseGeneticsExpressivityIdentification (biology)ParkinsonismParkinson's diseaseBiologyHuman geneticsGeneBioinformaticsMedicinePhenotypePathologyBotanyCRISPR and Genetic EngineeringGenomics and Rare DiseasesNeurological diseases and metabolism
Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) | Litcius