Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases

Exp Cell Res. 2014 Jul 1;325(1):50-5. doi: 10.1016/j.yexcr.2014.01.026. Epub 2014 Jan 31.


Rare diseases can be caused by genetic mutations that disrupt normal pre-mRNA splicing. Antisense oligonucleotide treatment to the splicing thus has therapeutic potential for many rare diseases. In this review we will focus on the state of the art on exon skipping using antisense oligonucleotides as a potential therapy for rare genetic diseases, outlining how this versatile approach can be exploited to correct for different mutations.

Keywords: Antisense oligonucleotides; Exon skipping; Rare disease; Splicing.

Publication types

  • Review

MeSH terms

  • Animals
  • Exons*
  • Gene Knockdown Techniques
  • Humans
  • Leber Congenital Amaurosis / genetics
  • Leber Congenital Amaurosis / therapy
  • Muscular Atrophy, Spinal / genetics
  • Muscular Atrophy, Spinal / therapy
  • Muscular Dystrophy, Duchenne / genetics
  • Muscular Dystrophy, Duchenne / therapy
  • Myositis Ossificans / genetics
  • Myositis Ossificans / therapy
  • Oligonucleotides, Antisense / genetics*
  • RNA Interference
  • RNA Splicing
  • Tauopathies / genetics
  • Tauopathies / therapy


  • Oligonucleotides, Antisense