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From Lysosomal Storage Disease iPSCs models to gene editing therapy: future perspectives

2021-07-08Conference object Open access
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dc.contributor.authorRibeiro, Diogo
dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorAmaral, Olga
dc.date.accessioned2022-07-09T14:55:50Z
dc.date.available2022-07-09T14:55:50Z
dc.date.issued2021-07-08
dc.descriptionTrabalho desenvolvido no âmbito do doutoramento de Diogo Ribeiro e Ana Joana Duartept_PT
dc.description.abstractFabry Disease (FD, MIM#301500) and Tay Sachs disease (TSD, MIM #272800) are two sphingolipidoses that belong to the vast group of lysosomal storage disorders (LSDs). These diseases are characterized by mutations in genes that encode lysosomal hydrolases or activator proteins engaged in the intralysosomal degradation of sphingolipids. In the Portuguese population, LSDs have a prevalence of 1/5000 live births. FD and TSD variant B1 are two of the most prevalent sphingolipidoses in the Portuguese population. FD is multisystemic and is caused by mutations on the GLA gene (MIM #300644) leading to alpha-galactosidase A impairment and major accumulation of globotriaosylceramide (Gb3) in the lysosomes. TSD variant B1 is a neurodegenerative LSD that, although rare, is the most frequent form of TSD in North of Portugal. The TSD variant B1, with mutation p.R178H (rs28941770), is frequent in specific population groups of Iberian heritage. The p.R178H HEXA (MIM#606869.0006) mutation has a carrier frequency of 1:340 in the Portuguese population and 1:119 in the North of Portugal. In our group, we are attempting to use gene editing through CRISPR/Cas9 as a therapeutic tool to correct the p.W287X (rs104894839) FD mutation and the p.R178H TSD variant B1 mutation. For this purpose, we first generate, using non-integrative epissomal vectors, two induced pluripotent stem cells (iPSCs) lines derived from skin fibroblasts of FD patient (INSAi002-A) and TSD variant B1 patient (in progress). As a near future perspective, we will use CRISPR/Cas9 technology to correct these mutationspt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8127
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectLysosomal Storage Diseasept_PT
dc.subjectLSDspt_PT
dc.subjectTay Sachspt_PT
dc.subjectFabrypt_PT
dc.subjectiPSCspt_PT
dc.subjectCRISPR based gene editingpt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectPortugalpt_PT
dc.titleFrom Lysosomal Storage Disease iPSCs models to gene editing therapy: future perspectivespt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlacePorto, Portugal (online)pt_PT
oaire.citation.title1st Symposium on Oligonucleotide Technologies and Therapeutics in Portugal (OTP2021), 8-9 July 2021pt_PT
person.familyNameAmaral
person.givenNameOlga
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0002-3478-2122
person.identifier.scopus-author-id7004054964
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication8c7fb04a-80c0-4dd7-b3c5-682f6d25662b
relation.isAuthorOfPublication.latestForDiscovery8c7fb04a-80c0-4dd7-b3c5-682f6d25662b

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