The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.

Parkinson disease dopaminergic neurons genetic risk induced pluripotent stem cell omics single-cell RNA sequencing single-cell ATAC sequencing SNCA LRRK2 GBA1

Journal

Cell genomics
ISSN: 2666-979X
Titre abrégé: Cell Genom
Pays: United States
ID NLM: 9918284260106676

Informations de publication

Date de publication:
08 Mar 2023
Historique:
received: 15 09 2022
revised: 22 09 2022
accepted: 12 01 2023
entrez: 23 3 2023
pubmed: 24 3 2023
medline: 24 3 2023
Statut: epublish

Résumé

The Foundational Data Initiative for Parkinson Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of induced pluripotent stem cell (iPSC) lines differentiated to dopaminergic (DA) neurons, a major affected cell type in PD. The lines were derived from the Parkinson's Progression Markers Initiative study, which included participants with PD carrying monogenic PD variants, variants with intermediate effects, and variants identified by genome-wide association studies and unaffected individuals. We generated genetic, epigenetic, regulatory, transcriptomic, and longitudinal cellular imaging data from iPSC-derived DA neurons to understand molecular relationships between disease-associated genetic variation and proximate molecular events. These data reveal that iPSC-derived DA neurons provide a valuable cellular context and foundational atlas for modeling PD genetic risk. We have integrated these data into a FOUNDIN-PD data browser as a resource for understanding the molecular pathogenesis of PD.

Identifiants

pubmed: 36950378
doi: 10.1016/j.xgen.2023.100261
pii: S2666-979X(23)00017-4
pmc: PMC10025424
doi:

Types de publication

Journal Article

Langues

eng

Pagination

100261

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Auteurs

Elisangela Bressan (E)

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Xylena Reed (X)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
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.

Vikas Bansal (V)

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Elizabeth Hutchins (E)

Division of Neurogenomics, The Translational Genomics Research Institute, Phoenix, AZ, USA.

Melanie M Cobb (MM)

Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA, USA.

Michelle G Webb (MG)

Department of Translational Genomics, Keck School of Medicine, University of Southern California, 1450 Biggy Street, Los Angeles, CA, USA.

Eric Alsop (E)

Division of Neurogenomics, The Translational Genomics Research Institute, Phoenix, AZ, USA.

Francis P Grenn (FP)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Anastasia Illarionova (A)

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Natalia Savytska (N)

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Ivo Violich (I)

Department of Translational Genomics, Keck School of Medicine, University of Southern California, 1450 Biggy Street, Los Angeles, CA, USA.

Stefanie Broeer (S)

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Noémia Fernandes (N)

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Ramiyapriya Sivakumar (R)

Department of Translational Genomics, Keck School of Medicine, University of Southern California, 1450 Biggy Street, Los Angeles, CA, USA.

Alexandra Beilina (A)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Kimberley J Billingsley (KJ)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Joos Berghausen (J)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Caroline B Pantazis (CB)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
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.

Vanessa Pitz (V)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Dhairya Patel (D)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Kensuke Daida (K)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Bessie Meechoovet (B)

Division of Neurogenomics, The Translational Genomics Research Institute, Phoenix, AZ, USA.

Rebecca Reiman (R)

Division of Neurogenomics, The Translational Genomics Research Institute, Phoenix, AZ, USA.

Amanda Courtright-Lim (A)

Division of Neurogenomics, The Translational Genomics Research Institute, Phoenix, AZ, USA.

Amber Logemann (A)

Division of Neurogenomics, The Translational Genomics Research Institute, Phoenix, AZ, USA.

Jerry Antone (J)

Division of Neurogenomics, The Translational Genomics Research Institute, Phoenix, AZ, USA.

Mariya Barch (M)

Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA, USA.

Robert Kitchen (R)

Massachusetts General Hospital, Cardiovascular Research Center, Charlestown, MA, USA.

Yan Li (Y)

Protein/Peptide Sequencing Facility, National Institute of Neurological, Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Clifton L Dalgard (CL)

The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

Patrizia Rizzu (P)

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Dena G Hernandez (DG)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Brooke E Hjelm (BE)

Department of Translational Genomics, Keck School of Medicine, University of Southern California, 1450 Biggy Street, Los Angeles, CA, USA.

Mike Nalls (M)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
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.
Data Tecnica International, Washington, DC, USA.

J Raphael Gibbs (JR)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Steven Finkbeiner (S)

Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA, USA.
Departments of Neurology and Physiology, University of California, San Francisco, San Francisco, CA, USA.

Mark R Cookson (MR)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Kendall Van Keuren-Jensen (K)

Division of Neurogenomics, The Translational Genomics Research Institute, Phoenix, AZ, USA.

David W Craig (DW)

Department of Translational Genomics, Keck School of Medicine, University of Southern California, 1450 Biggy Street, Los Angeles, CA, USA.

Andrew B Singleton (AB)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
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.

Peter Heutink (P)

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Cornelis Blauwendraat (C)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
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.

Classifications MeSH