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Induced Pluripotent Stem Cells in Disease Modeling and Gene Identification

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Disease Gene Identification

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1706))

Abstract

Experimental modeling of human inherited disorders provides insight into the cellular and molecular mechanisms involved, and the underlying genetic component influencing, the disease phenotype. The breakthrough development of induced pluripotent stem cell (iPSC) technology represents a quantum leap in experimental modeling of human diseases, providing investigators with a self-renewing and, thus, unlimited source of pluripotent cells for targeted differentiation. In principle, the entire range of cell types found in the human body can be interrogated using an iPSC approach. Therefore, iPSC technology, and the increasingly refined abilities to differentiate iPSCs into disease-relevant target cells, has far-reaching implications for understanding disease pathophysiology, identifying disease-causing genes, and developing more precise therapeutics, including advances in regenerative medicine. In this chapter, we discuss the technological perspectives and recent developments in the application of patient-derived iPSC lines for human disease modeling and disease gene identification.

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Authors and Affiliations

  1. South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, School of Medicine, 1214 W Schunior St, Edinburg, TX, 78541, USA

    Satish Kumar, John Blangero & Joanne E. Curran

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  1. Satish Kumar
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  2. John Blangero
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Correspondence to Satish Kumar .

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  1. Translational Genomics Research Institute, Phoenix, Arizona, USA

    Johanna K. DiStefano

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Kumar, S., Blangero, J., Curran, J.E. (2018). Induced Pluripotent Stem Cells in Disease Modeling and Gene Identification. In: DiStefano, J. (eds) Disease Gene Identification. Methods in Molecular Biology, vol 1706. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7471-9_2

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