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 J Keller Sarmiento; Ai-Huey Tan; Harutyun Madoev; Caterina Galandra; Johanna Junker; Karisha Roopnarain; Justin Solle; Claire Wegel; Zih-Hua Fang; Peter Heutink; Kishore R Kumar; Shen-Yang Lim; Enza Maria Valente; Mike Nalls; Cornelis Blauwendraat; Andrew Singleton; Niccolo Mencacci; Katja Lohmann; Christine Klein; Global Parkinson’s Genetic Program (GP2)

doi:10.1038/s41531-023-00526-9

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

NPJ Parkinsons Dis. 2023 Jun 27;9(1):100. doi: 10.1038/s41531-023-00526-9.

Authors

Lara M Lange¹, Micol Avenali^{2

3}, Melina Ellis^{4

5}, Anastasia Illarionova⁶, Ignacio J Keller Sarmiento⁷, Ai-Huey Tan⁸, Harutyun Madoev¹, Caterina Galandra^{2

9}, Johanna Junker¹, Karisha Roopnarain¹, Justin Solle¹⁰, Claire Wegel¹¹, Zih-Hua Fang⁶, Peter Heutink⁶, Kishore R Kumar^{12

13}, Shen-Yang Lim⁸, Enza Maria Valente^{2

9}, Mike Nalls^{14

15

16}, Cornelis Blauwendraat^{15

17}, Andrew Singleton^{15

16}, Niccolo Mencacci⁷, Katja Lohmann¹, Christine Klein¹⁸; Global Parkinson’s Genetic Program (GP2)

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² IRCCS Mondino Foundation, Pavia, Italy.
³ Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
⁴ Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia.
⁵ Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
⁶ German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
⁷ Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
⁸ Division of Neurology, Department of Medicine, and the Mah Pooi Soo and Tan Chin Nam Centre for Parkinson's and Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
⁹ Department of Molecular Medicine, University of Pavia, Pavia, Italy.
¹⁰ Department of Clinical Research, Michael J. Fox Foundation for Parkinson's Research, New York City, NY, USA.
¹¹ Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
¹² Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
¹³ Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, The University of Sydney, Concord, NSW, Australia.
¹⁴ Data Tecnica International, Washington, DC, USA.
¹⁵ Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
¹⁶ Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
¹⁷ Integrative Genomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
¹⁸ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. christine.klein@neuro.uni-luebeck.de.

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.