In vitro modeling of complex neurological diseases

Frank Soldner, Rudolf Jaenisch

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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
Pages1-19
Number of pages19
Edition9783319601915
DOIs
StatePublished - Jan 1 2017
Externally publishedYes

Publication series

NameResearch and Perspectives in Neurosciences
Number9783319601915
ISSN (Print)0945-6082
ISSN (Electronic)2196-3096

Fingerprint

Parkinson Disease
Synucleins
Pluripotent Stem Cells
Genome-Wide Association Study
Epigenomics
Transcription Factors
Theoretical Models
Technology
In Vitro Techniques
Genes
Therapeutics
Gene Editing

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Soldner, F., & Jaenisch, R. (2017). In vitro modeling of complex neurological diseases. In Research and Perspectives in Neurosciences (9783319601915 ed., pp. 1-19). (Research and Perspectives in Neurosciences; No. 9783319601915). Springer Verlag. https://doi.org/10.1007/978-3-319-60192-2_1

In vitro modeling of complex neurological diseases. / Soldner, Frank; Jaenisch, Rudolf.

Research and Perspectives in Neurosciences. 9783319601915. ed. Springer Verlag, 2017. p. 1-19 (Research and Perspectives in Neurosciences; No. 9783319601915).

Research output: Chapter in Book/Report/Conference proceedingChapter

Soldner, F & Jaenisch, R 2017, In vitro modeling of complex neurological diseases. in Research and Perspectives in Neurosciences. 9783319601915 edn, Research and Perspectives in Neurosciences, no. 9783319601915, Springer Verlag, pp. 1-19. https://doi.org/10.1007/978-3-319-60192-2_1
Soldner F, Jaenisch R. In vitro modeling of complex neurological diseases. In Research and Perspectives in Neurosciences. 9783319601915 ed. Springer Verlag. 2017. p. 1-19. (Research and Perspectives in Neurosciences; 9783319601915). https://doi.org/10.1007/978-3-319-60192-2_1
Soldner, Frank ; Jaenisch, Rudolf. / In vitro modeling of complex neurological diseases. Research and Perspectives in Neurosciences. 9783319601915. ed. Springer Verlag, 2017. pp. 1-19 (Research and Perspectives in Neurosciences; 9783319601915).
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