CRISPR/Cas in iPSCs from Sphingolipidoses patients

Detalhes bibliográficos
Autor(a) principal: Amaral, Olga
Data de Publicação: 2019
Outros Autores: Duarte, Ana, Ribeiro, Diogo, Moreira, Luciana
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/6588
Resumo: Abstract 15th Annual WORLDSymposium 2019 Scientific Meeting - Lysosomal Disease Research, 4-8 Feb 2019, Orlando, Florida, USA.
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spelling CRISPR/Cas in iPSCs from Sphingolipidoses patientsHuman GeneticsGene EditingCRISPR/CasLysosomal DisordersDoenças GenéticasAbstract 15th Annual WORLDSymposium 2019 Scientific Meeting - Lysosomal Disease Research, 4-8 Feb 2019, Orlando, Florida, USA.Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) were found as an immune adaptive mechanism in bacteria and quickly were applied to various fields as a promising tool for gene editing. Lysosomal storage diseases (LSDs) are a group of metabolic disorders caused by defects in lysosomal proteins leading to accumulation of undigested macromolecules within the cells. The lack of good in vitro models hinders research of the pathophysiologic mechanisms and the development of new therapies. Induced pluripotent stem cells (iPSCs) are patient-specific and can be differentiated in any cell type. The advantage of iPSCs is to enable targeted studies in cells with the patient’s own background leading to more straightforward results than other models. Combining CRISPR and iPSCs is, therefore, a promising strategy. We aim to use CRISPR/Cas-mediated gene editing to provide more specific cellular models of disease, to correct causal mutations in LSDs and to create mutants for functional studies. In this work, we generated and characterized iPSCs from human fibroblasts obtained from Gaucher and Fabry patients (through Gaslini Institute) and will edit them with a CRISP/Cas9 approach. Because both gene editing and iPSCs generation require manipulating the cell’s genome, we envisage multiple check points along the workflow. It will be useful to compare the “native” mutated cells with the corrected cells that modulate the “disease in a dish”. Gene editing is still recent and the methods require improvement, namely increasing transfection rates and mutagenesis efficiency with less off-targets. Nevertheless, CRISPR/Cas is a promising alternative to other therapies, and every result contributes to the enhancement of this technology, broadening the validation of CRISPR application and making it an accessible option.FCT Funding: PTDC/BIM-MEC/4762/2014ElsevierRepositório Científico do Instituto Nacional de SaúdeAmaral, OlgaDuarte, AnaRibeiro, DiogoMoreira, Luciana2020-05-03T18:38:49Z2019-02-022019-02-02T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/6588engMol Genet Metab. 2019 Feb2;126(2):S101-S102. doi:10.1016/j.ymgme.2018.12.2551096-719210.1016/j.ymgme.2018.12.255info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:41:45Zoai:repositorio.insa.pt:10400.18/6588Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:41:40.170835Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv CRISPR/Cas in iPSCs from Sphingolipidoses patients
title CRISPR/Cas in iPSCs from Sphingolipidoses patients
spellingShingle CRISPR/Cas in iPSCs from Sphingolipidoses patients
Amaral, Olga
Human Genetics
Gene Editing
CRISPR/Cas
Lysosomal Disorders
Doenças Genéticas
title_short CRISPR/Cas in iPSCs from Sphingolipidoses patients
title_full CRISPR/Cas in iPSCs from Sphingolipidoses patients
title_fullStr CRISPR/Cas in iPSCs from Sphingolipidoses patients
title_full_unstemmed CRISPR/Cas in iPSCs from Sphingolipidoses patients
title_sort CRISPR/Cas in iPSCs from Sphingolipidoses patients
author Amaral, Olga
author_facet Amaral, Olga
Duarte, Ana
Ribeiro, Diogo
Moreira, Luciana
author_role author
author2 Duarte, Ana
Ribeiro, Diogo
Moreira, Luciana
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Amaral, Olga
Duarte, Ana
Ribeiro, Diogo
Moreira, Luciana
dc.subject.por.fl_str_mv Human Genetics
Gene Editing
CRISPR/Cas
Lysosomal Disorders
Doenças Genéticas
topic Human Genetics
Gene Editing
CRISPR/Cas
Lysosomal Disorders
Doenças Genéticas
description Abstract 15th Annual WORLDSymposium 2019 Scientific Meeting - Lysosomal Disease Research, 4-8 Feb 2019, Orlando, Florida, USA.
publishDate 2019
dc.date.none.fl_str_mv 2019-02-02
2019-02-02T00:00:00Z
2020-05-03T18:38:49Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/6588
url http://hdl.handle.net/10400.18/6588
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Mol Genet Metab. 2019 Feb2;126(2):S101-S102. doi:10.1016/j.ymgme.2018.12.255
1096-7192
10.1016/j.ymgme.2018.12.255
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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