CRISPR-Cas9 technology: applications and human disease modelling

Brief Funct Genomics. 2017 Jan;16(1):4-12. doi: 10.1093/bfgp/elw025. Epub 2016 Jun 26.


Genome engineering is a powerful tool for a wide range of applications in biomedical research and medicine. The development of the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 system has revolutionized the field of gene editing, thus facilitating efficient genome editing through the creation of targeted double-strand breaks of almost any organism and cell type. In addition, CRISPR-Cas9 technology has been used successfully for many other purposes, including regulation of endogenous gene expression, epigenome editing, live-cell labelling of chromosomal loci, edition of single-stranded RNA and high-throughput gene screening. The implementation of the CRISPR-Cas9 system has increased the number of available technological alternatives for studying gene function, thus enabling generation of CRISPR-based disease models. Although many mechanistic questions remain to be answered and several challenges have yet to be addressed, the use of CRISPR-Cas9-based genome engineering technologies will increase our knowledge of disease processes and their treatment in the near future.

Keywords: CRISPR; Cas9; animal models; biomedicine; cancer; gene editing; genome engineering; human disease.

Publication types

  • Review

MeSH terms

  • Animals
  • Clustered Regularly Interspaced Short Palindromic Repeats*
  • Gene Editing
  • Humans
  • Models, Animal*