In Vitro Modeling of Complex Neurological Diseases
Name
Soldner-Jaenisch2017_Chapter_InVitroModelingOfComplexNeurol.pdf
Description
Published version
Size
302.25 KB
Format
Adobe PDF
Checksum (MD5)
e0d6d2ac71b2cae99b7c405ee26bb64f
Author(s)
Soldner, Frank
Jaenisch, Rudolf
Date Issued
2017
Journal
Genome Editing in Neurosciences
Publisher
Springer International Publishing
Citation
Soldner, Frank and Rudolf Jaenisch. "In Vitro Modeling of Complex Neurological Diseases." Genome Editing in Neurosciences, edited by Rudolf Jaenisch, Feng Zhang and Fred Gage, Springer International Publishing, 2017, 1-19.
© 2017 The Author(s)
Version
Final published version
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.
MIT Department
Massachusetts Institute of Technology. Department of Biology
Terms of Use
Creative Commons Attribution 4.0 International license
Persistent DSpace Link
DOI of Published Version
https://doi.org/10.1007/978-3-319-60192-2_1
