- •Gene therapy represents a viable treatment option for various diseases.
- •Clinical trials have been conducted on gene therapy addressing genodermatoses.
- •This review summarizes the current use of gene therapy in the dermatological field.
- •Superficial gene-therapy sites can be evaluated for presence of neoplasms.
- •Therefore, dermatologists have an important role in gene therapy application.
With recent advances in genetic engineering technology, gene therapy is now being considered as a treatment not only for congenital diseases but also acquired diseases, such as cancer. Gene therapeutic agents for hereditary immune disorders, haemophilia, retinal diseases, neurodegenerative diseases, and lymphoma have been approved in the United States and Europe. In the field of dermatology, clinical trials of gene therapy have been conducted, because the skin is an easily accessible organ that represents an attractive tissue for gene therapy. In recent years, gene therapy has been attempted for a variety of skin diseases, such as genodermatoses (including epidermolysis bullosa and Netherton syndrome), cutaneous lymphoma, and malignant melanoma. As a result, it is difficult to grasp the current status of gene therapy in dermatology. This review focuses on each of the gene-transfer techniques currently in use and describes the current status of gene therapy for skin diseases using each technology.
Abbreviations:αGLA (α-galactosidase A), AAV (adeno-associated virus), ASO (antisense oligonucleotide), COL7A1 (collagen type VII α-1 chain), CBCL (cutaneous B-cell lymphoma), CR (complete response), CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9), CTCL (cutaneous T cell lymphoma), DEB (dystrophic epidermolysis bullosa), DSB (double-strand break), EB (epidermolysis bullosa), EBGraft (gene-corrected autologous skin-equivalent grafts (EB patients)), gRNA (guide RNA), HIV (human immunodeficiency virus), HR (homologous recombination), HSV (herpes simplex virus), IL2RG (interleukin 2 receptor subunit γ), JEB (junctional epidermolysis bullosa), LAMB3 (laminin subunit β3), LTR (long terminal repeat), MLV (Moloney murine leukaemia virus), NHEJ (non-homologous end joining), NS (Netherton syndrome), PR (partial response), RDEB (autosomal recessive dystrophic epidermolysis bullosa), SCID (severe combined immunodeficiency), SIN (self-inactivating), SPINK5 (serine peptidase inhibitor Kazal-type 5), T-VEC (talimogene laherparepvec), TALEN (transcription activator-like effector nuclease), ZFN (zinc finger nuclease)
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Satoru Shinkuma (M.D., Ph.D.) received his M.D. in 2004 from Nara Medical University School of Medicine, Kashihara, Japan and Ph.D. in 2011 from Hokkaido University, Sapporo, Japan. Dr. Shinkuma then worked as a postdoctoral fellow at Columbia University, New York, USA (2013–2014). After returning to Japan, he worked as an assistant professor at Hokkaido University and then as associate professor at Niigata University and is now an associate professor at Nara Medical University. His research interest is in the field of gene therapy and regenerative therapy for genetic skin disorders, particularly epidermolysis bullosa and congenital hair disorders.
Published online: May 20, 2021
Accepted: May 18, 2021
Received in revised form: May 18, 2021
Received: September 22, 2020
© 2021 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.