In vitro modeling of complex neurological diseases

Frank Soldner, Rudolf Jaenisch

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations


A major reason for the lack of effective therapeutics and a deep biological understanding of complex diseases, which are thought to result from a complex interaction between genetic and environmental risk factors, is the paucity of relevant experimental models. This review describes a novel experimental approach that allows the study of the functional effects of disease-associated risk in complex disease by combining genome wide association studies (GWAS) and genome–scale epigenetic data to prioritize disease-associated risk variants with efficient gene editing technologies in human pluripotent stem cells (hPSCs). As a proof of principle, we recently used such a genetically precisely controlled experimental system to identify a common Parkinson’s disease-associated risk variant in a non-coding distal enhancer element that alters the binding of transcription factors and regulates the expression of α-synuclein (SNCA), a key gene implicated in the pathogenesis of Parkinson’s disease.

Original languageEnglish (US)
Title of host publicationResearch and Perspectives in Neurosciences
PublisherSpringer Verlag
Number of pages19
StatePublished - 2017
Externally publishedYes

Publication series

NameResearch and Perspectives in Neurosciences
ISSN (Print)0945-6082
ISSN (Electronic)2196-3096

ASJC Scopus subject areas

  • Neuroscience(all)


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