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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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