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Splicing modulation therapy in the treatment of genetic diseases

Authors Arechavala-Gomeza V, Khoo B, Aartsma-Rus A

Received 21 July 2014

Accepted for publication 4 September 2014

Published 4 December 2014 Volume 2014:7 Pages 245—252

DOI https://doi.org/10.2147/TACG.S71506

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 5

Editor who approved publication: Prof. Dr. Martin H. Maurer


Virginia Arechavala-Gomeza,1 Bernard Khoo,2 Annemieke Aartsma-Rus3

1Neuromuscular Disorders Group, BioCruces Health Research Institute, Barakaldo, Bizkaia, Spain; 2Endocrinology, Division of Medicine, University College London, London, UK; 3Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands

All authors contributed equally to this manuscript

Abstract: Antisense-mediated splicing modulation is a tool that can be exploited in several ways to provide a potential therapy for rare genetic diseases. This approach is currently being tested in clinical trials for Duchenne muscular dystrophy and spinal muscular atrophy. The present review outlines the versatility of the approach to correct cryptic splicing, modulate alternative splicing, restore the open reading frame, and induce protein knockdown, providing examples of each. Finally, we outline a possible path forward toward the clinical application of this approach for a wide variety of inherited rare diseases.

Keywords: splicing, therapy, antisense oligonucleotides, cryptic splicing, alternative splicing

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