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Genome Editing Tools for Lysosomal Storage Disorders

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Genome Editing in Biomedical Sciences

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1429))

Abstract

Genome editing has multiple applications in the biomedical field. They can be used to modify genomes at specific locations, being able to either delete, reduce, or even enhance gene transcription and protein expression. Here, we summarize applications of genome editing used in the field of lysosomal disorders. We focus on the development of cell lines for study of disease pathogenesis, drug discovery, and pathogenicity of specific variants. Furthermore, we highlight the main studies that use gene editing as a gene therapy platform for these disorders, both in preclinical and clinical studies. We conclude that gene editing has been able to change quickly the scenario of these disorders, allowing the development of new therapies and improving the knowledge on disease pathogenesis. Should they confirm their hype, the first gene editing-based products for lysosomal disorders could be available in the next years.

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Acknowledgments

DAS received doctoral a scholarship from Pontificia Universidad Javeriana. CJAD is supported by Ministerio de Ciencia, Tecnología e Innovación, Colombia (Contract 120380763212, ID 8352); Pontificia Universidad Javeriana (ID 20289); the National MPS Society (ID 9509); and the Institute for the Study of Inborn Errors of Metabolism (Activity 120289301011ZZ). This work was supported by FIPE-HCPA, CNPq, CAPES, FAPESP (2019/15369-6), and FAPERGS (22/2551-0000385-0).

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Authors and Affiliations

  1. Cell, Tissue and Gene Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil

    Esteban Alberto Gonzalez & Guilherme Baldo

  2. Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil

    Esteban Alberto Gonzalez & Guilherme Baldo

  3. Departamento de Bioquímica, Instituto de Farmacologia e Biologia Molecular, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

    Helena Nader

  4. Postgraduate Program in Sciences of Gastroenterology and Hepatology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil

    Marina Siebert

  5. Basic Research and Advanced Investigations in Neurosciences Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil

    Marina Siebert

  6. Unit of Laboratorial Research, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil

    Marina Siebert

  7. Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá, Colombia

    Diego A. Suarez & Carlos J. Alméciga-Díaz

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  1. Esteban Alberto Gonzalez
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  2. Helena Nader
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  3. Marina Siebert
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  4. Diego A. Suarez
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  5. Carlos J. Alméciga-Díaz
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  6. Guilherme Baldo
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Corresponding author

Correspondence to Guilherme Baldo .

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Editors and Affiliations

  1. Laboratory of Genetics and Molecular Biology, Department of Basic and Oral Biology, School of Dentistry of Ribeirão Preto, University of São Paulo, Ribeirão Preto Campus, São Paulo, Brazil

    Geraldo A. Passos

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© 2023 The Author(s), under exclusive license to Springer Nature Switzerland AG

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Gonzalez, E.A., Nader, H., Siebert, M., Suarez, D.A., Alméciga-Díaz, C.J., Baldo, G. (2023). Genome Editing Tools for Lysosomal Storage Disorders. In: Passos, G.A. (eds) Genome Editing in Biomedical Sciences. Advances in Experimental Medicine and Biology, vol 1429. Springer, Cham. https://doi.org/10.1007/978-3-031-33325-5_8

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