Figure 1

Figure 1. Overview of adopting induced pluripotent stem cell (iPSC) technology in autism spectrum disorder (ASD) study. From: Cellular Reprogramming: a novel tool for investigating autism spectrum disorders.

ASD is a genetic neurodevelopmental disorder. Monogenic syndromic ASD is caused by well-defined genetic defect, including Rett syndrome, Fragile X syndrome, or Timothy syndrome. Advanced genomics tools are used to actively seek novel ASD genes. From skin biopsy or blood samples, patient-derived ASD-iPSCs can be generated. Cortical neurons that are most relevant neurons for ASD can be directed from iPSCs using well-established protocols (). The neuronal cells can be used to elucidate novel disease pathogenesis and to screen drugs as potential treatments. Recently developed gene editing technologies facilitate correcting the given mutation to provide isogenic control for in vitro diseases modeling or cell-based therapy.

Kun-Yong Kim, et al. Trends Mol Med. ;18(8):463-471.

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