Current Diabetes Reports

, 17:116 | Cite as

Gene Editing and Human Pluripotent Stem Cells: Tools for Advancing Diabetes Disease Modeling and Beta-Cell Development

  • Katelyn Millette
  • Senta GeorgiaEmail author
Immunology, Transplantation, and Regenerative Medicine (L Piemonti and V Sordi, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Immunology, Transplantation, and Regenerative Medicine


Purpose of Review

This review will focus on the multiple approaches to gene editing and address the potential use of genetically modified human pluripotent stem cell-derived beta cells (SC-β) as a tool to study human beta-cell development and model their function in diabetes. We will explore how new variations of CRISPR/Cas9 gene editing may accelerate our understanding of beta-cell developmental biology, elucidate novel mechanisms that establish and regulate beta-cell function, and assist in pioneering new therapeutic modalities for treating diabetes.

Recent Findings

Improvements in CRISPR/Cas9 target specificity and homology-directed recombination continue to advance its use in engineering stem cells to model and potentially treat disease. We will review how CRISPR/Cas9 gene editing is informing our understanding of beta-cell development and expanding the therapeutic possibilities for treating diabetes and other diseases.


Here we focus on the emerging use of gene editing technology, specifically CRISPR/Cas9, as a means of manipulating human gene expression to gain novel insights into the roles of key factors in beta-cell development and function. Taken together, the combined use of SC-β cells and CRISPR/Cas9 gene editing will shed new light on human beta-cell development and function and accelerate our progress towards developing new therapies for patients with diabetes.


Diabetes Gene editing CRISPR/Cas9 Pluripotent stem cells Cellular therapy Disease modeling Beta cells Insulin 



Induced pluripotent stem cell


Human pluripotent stem cell-derived beta cells


Human pluripotent stem cell


Embryonic stem cell


Homologous recombination


Non-homologous end-joining


Zinc finger nucleases


Transcription activator-like effector nucleases


Clustered regularly interspaced short palindromic repeats


Single-guide RNA


Double-strand break


Genome-wide association study



We thank Cristy Lytal for her help in editing the manuscript. SG was supported by a Larry L. Hillblom Foundation grant (2015-D-006-SUP) and a California Institute for Regenerative Medicine Discovery grant (DISC1-088680).

Compliance with Ethical Standards

Conflict of Interest

Katelyn Millette and Senta Georgia declare that they have no conflicts of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of interest, published recently, have been highlighted as: •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  1. 1.Center for Endocrinology, Diabetes and Metabolism, Department of PediatricsChildren’s Hospital Los AngelesLos AngelesUSA
  2. 2.Departments of Pediatrics and Stem Cell Biology and Regenerative Medicine, Keck School of MedicineUniversity of Southern CaliforniaLos AngelesUSA
  3. 3.Developmental Biology and Regenerative Medicine ProgramSaban Research Institute of Children’s Hospital Los AngelesLos AngelesUSA

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