@inbook{472805f7ecb14f39bbc2c426029ba1ff,
title = "In vitro modeling of complex neurological diseases",
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{\textquoteright}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{\textquoteright}s disease.",
author = "Frank Soldner and Rudolf Jaenisch",
note = "Publisher Copyright: {\textcopyright} 2017, The Author(s).",
year = "2017",
doi = "10.1007/978-3-319-60192-2_1",
language = "English (US)",
series = "Research and Perspectives in Neurosciences",
publisher = "Springer Verlag",
number = "9783319601915",
pages = "1--19",
booktitle = "Research and Perspectives in Neurosciences",
edition = "9783319601915",
}