@article{9415427b142d40c7b30b888e8fca2c80,
title = "CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies",
abstract = "CRISPR gene-editing technology creates precise and permanent modifications to DNA. It has significantly advanced our ability to generate animal disease models for use in biomedical research and also has potential to revolutionize the treatment of genetic disorders. Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disease that could potentially benefit from the development of CRISPR therapy. It is commonly associated with mutations that disrupt the reading frame of the DMD gene that encodes dystrophin, an essential scaffolding protein that stabilizes striated muscles and protects them from contractile-induced damage. CRISPR enables the rapid generation of various animal models harboring mutations that closely simulates the wide variety of mutations observed in DMD patients. These models provide a platform for the testing of sequence-specific interventions like CRISPR therapy that aim to reframe or skip DMD mutations to restore functional dystrophin expression. This article is categorized under: Congenital Diseases > Genetics/Genomics/Epigenetics.",
keywords = "animal models, CRISPR therapy, CRISPR/Cas9, Duchenne muscular dystrophy, mice models",
author = "Chey, {Yu C.J.} and Jayshen Arudkumar and Annemieke Aartsma-Rus and Fatwa Adikusuma and Thomas, {Paul Q.}",
note = "Funding Information: Australian CSIRO Synthetic Biology Future Science Platform (to FA); Emerging Leaders Development Award of Faculty of Health & Medical Science, University of Adelaide (to FA); SAGE is supported by Phenomics Australia via the Australian Government National Collaborative Research Infrastructure Strategy (NCRIS) program. AAR is supported by grants from the Prinses Beatrix Spierfonds, Spieren voor Spieren, Duchenne Parent Project the Netherlands. She is part of the Duchenne Center Netherlands, the EU‐BIND consortium and COST Action 13107 Darter. Funding Information: All figures created with BioRender.com. Open access publishing facilitated by The University of Adelaide, as part of the Wiley - The University of Adelaide agreement via the Council of Australian University Librarians. Funding Information: The authors declare that there is no conflict of interest. Annemieke Aartsma‐Rus has no conflicts related to this manuscript. For full transparency she discloses being employed by LUMC which has patents on exon skipping technology, some of which has been licensed to BioMarin and subsequently sublicensed to Sarepta. As co‐inventor of some of these patents AAR is entitled to a share of royalties. AAR further discloses being ad hoc consultant for PTC Therapeutics, Sarepta Therapeutics, Regenxbio, Alpha Anomeric, BioMarin Pharmaceuticals Inc., Eisai, Entrada, Takeda, Splicesense, Galapagos, and Audentes. Past ad hoc consulting has occurred for: CRISPR Therapeutics, Summit PLC, Astra Zeneca, Santhera, Bridge Bio, Global Guidepoint and GLG consultancy, Grunenthal, Wave, and BioClinica. AAR also reports having been a member of the Duchenne Network Steering Committee (BioMarin) and being a member of the scientific advisory boards of Eisai, hybridize therapeutics, silence therapeutics, Sarepta therapeutics. Past SAB memberships: ProQR, Philae Pharmaceuticals. Remuneration for these activities is paid to LUMC. LUMC also received speaker honoraria from PTC Therapeutics and BioMarin Pharmaceuticals and funding for contract research from Italpharmaco, Sapreme, and Alpha Anomeric. Project funding is received from Sarepta Therapeutics. Funding Information: Australian CSIRO Synthetic Biology Future Science Platform; Emerging Leaders Development Award of Faculty of Health & Medical Science, University of Adelaide; Phenomics Australia via the Australian Government National Collaborative Research Infrastructure Strategy (NCRIS) Program; Prinses Beatrix Spierfonds, Spieren voor Spieren, Duchenne Parent Project the Netherlands Funding information Publisher Copyright: {\textcopyright} 2022 The Authors. WIREs Mechanisms of Disease published by Wiley Periodicals LLC.",
year = "2023",
month = jan,
day = "1",
doi = "10.1002/wsbm.1580",
language = "English",
volume = "15",
journal = "WIREs Mechanisms of Disease",
issn = "2692-9368",
publisher = "John Wiley and Sons Inc.",
number = "1",
}