FOUNDIN-PD

FOUNDIN-PD provides a multi-layered molecular resource linking genetic variation to molecular events in induced pluripotent stem cell (iPSC)-derived dopaminergic (DA) neurons to support mechanistic studies of Parkinson's disease.

Key Features:

• Multi-layered molecular datasets: Genetic, epigenetic, regulatory, transcriptomic, and longitudinal cellular imaging datasets were generated from iPSC-derived DA neurons.
• Cellular model: iPSC lines were differentiated into dopaminergic (DA) neurons, the neuronal subtype critically impacted in Parkinson's disease.
• Cohort composition: iPSC lines were sourced from Parkinson’s Progression Markers Initiative (PPMI) participants including individuals with monogenic SNCA variants, intermediate-effect variants, GWAS-identified variants, and unaffected controls.
• Genotype-to-phenotype linkage: Datasets are structured to relate disease-associated genetic variations to proximate molecular events relevant to PD pathogenesis.
• Longitudinal cellular imaging: Time-resolved imaging datasets capture cellular phenotypes across differentiation or observation periods.

Scientific Applications:

• Mechanistic studies of PD pathogenesis: Elucidate molecular relationships between disease-associated genetic variation and downstream molecular events in DA neurons.
• Variant-specific analyses: Investigate effects of monogenic SNCA variants and intermediate-effect variants on molecular and cellular phenotypes.
• GWAS interpretation: Map GWAS-identified risk variants to regulatory, transcriptomic, and cellular phenotypes in disease-relevant neurons.
• Comparative genotype studies: Compare molecular signatures between affected individuals and unaffected controls to identify disease-associated alterations.

Methodology:

Generation of multi-layered molecular datasets from PPMI-sourced iPSC lines differentiated into dopaminergic neurons, comprising genetic, epigenetic, regulatory, transcriptomic, and longitudinal cellular imaging data.