Treating Duchenne’s Muscular Dystrophy by Using Gene Editing and Gene Therapy
DOI:
https://doi.org/10.58445/rars.2165Keywords:
Duchenne's Muscular Dystrophy, Gene editing, Gene therapy, Gene mutations, CRISPR-Cas9Abstract
Duchenne’s Muscular Dystrophy, DMD, occurs mainly in boys aged two to four and is caused by a genetic mutation that lacks dystrophin, which is a protein that keeps the muscles intact. This paper explores and summarizes several successful gene editing and gene therapy clinical trials that have treated patients with DMD. Using a CRISPR-Cas9 method, it cuts out sections of the dystrophin gene allowing for the cell to make a shortened but functional version of the protein. FDA-approved treatments like Elevidys are a result of gene therapy and it delivers a shortened version of the dystrophin gene in an effort to restore its functionality. While gene editing and gene therapy are a great way to treat DMD and other diseases, there are still many safety and ethical concerns of using these technologies. Ranging from off-target effects, unwanted immune responses, and several ethical implications regarding these technologies. Addressing the many safety and ethical implications of gene editing and gene therapy is a crucial step towards advancing the potential of a future cure for DMD.
References
Bateman-House, Alison. “Somatic Gene Therapy: Ethics and Access.” Annual Review of Genomics and Human Genetics, vol. 25, no. 1, 27 Aug. 2024, pp. 421–438, https://doi.org/10.1146/annurev-genom-021623-104458.
Guo, Congting, et al. “Off-Target Effects in CRISPR/Cas9 Gene Editing.” Frontiers in Bioengineering and Biotechnology, vol. 11, no. 1143157, 9 Mar. 2023, www.ncbi.nlm.nih.gov/pmc/articles/PMC10034092/#:~:text=The%20off%2Dtarget%20effects%20occur,et%20al.%2C%202016a)., https://doi.org/10.3389/fbioe.2023.1143157.
Health, UCLA. “Gene-Editing Approach to Treating Duchenne Muscular Dystrophy Moves Forward with Help from $3.4 Million CIRM Grant.” Uclahealth.org, UCLA Health, 27 Jan. 2022, www.uclahealth.org/news/article/gene-editing-duchenne-muscular-dystrophy.
Kempler, Carly. “FDA Approves First Gene Therapy for Treatment of Certain Patients with Duchenne Muscular Dystrophy.” FDA, 23 June 2023, www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy.
Lee, Tsung-Ling, and Tsutomu Sawai. “Navigating Equity in Global Access to Genome Therapy Expanding Access to Potentially Transformative Therapies and Benefiting Those in Need Requires Global Policy Changes.” Frontiers in Genetics, vol. 15, 4 Apr. 2024, p. 1381172, www.ncbi.nlm.nih.gov/pmc/articles/PMC11024294/, https://doi.org/10.3389/fgene.2024.1381172.
MedlinePlus. “What Are Genome Editing and CRISPR-Cas9?” Medlineplus.gov, Medlineplus, 22 Mar. 2022, medlineplus.gov/genetics/understanding/genomicresearch/genomeediting/.
Muscular Dystrophy Association. “Duchenne Muscular Dystrophy (DMD) - Causes/Inheritance.” Muscular Dystrophy Association, 2024, www.mda.org/disease/duchenne-muscular-dystrophy/causes-inheritance.
Sack, Brandon K, and Roland W Herzog. “Evading the Immune Response upon in Vivo Gene Therapy with Viral Vectors.” Current Opinion in Molecular Therapeutics, vol. 11, no. 5, Oct. 2009, p. 493, pmc.ncbi.nlm.nih.gov/articles/PMC3584155/.
“Sarepta Therapeutics Announces Topline Results from EMBARK, a Global Pivotal Study of ELEVIDYS Gene Therapy for Duchenne Muscular Dystrophy | Sarepta Therapeutics, Inc.” Sarepta Therapeutics, Inc., 2023, investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-announces-topline-results-embark-global-0.
Taylor, Nick Paul. “DMD Gene Therapy Death Exposes Risks of Treating Older Patients.” Fierce Biotech, 19 May 2023, www.fiercebiotech.com/biotech/dmd-gene-therapy-death-exposes-risks-treating-older-patients.
“Types of Genetic Variants.” Parent Project Muscular Dystrophy, www.parentprojectmd.org/about-duchenne/what-is-duchenne/types-of-genetic-variants/.
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