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Upstream of precise disease models for better downstream decision making

2018-07Conference object Open access
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dc.contributor.authorDuarte, Ana
dc.contributor.authorMoreira, Luciana
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorBragança, José
dc.contributor.authorAmaral, Olga
dc.date.accessioned2019-03-25T12:21:45Z
dc.date.available2019-03-25T12:21:45Z
dc.date.issued2018-07
dc.descriptionLM, DR were grantees of FCT: PTDC/BIM-MEC/4762/2014 (2016-) and AJD was recipient of a PhD grant from FCT SFRH/BD/118009/2016.pt_PT
dc.description.abstractInborn errors of metabolism are a common cause of inherited diseases. Diseases of carbohydrate metabolism pathway include lysosomal storage diseases (LSDs), which are a significant subgroup with approximately 70 LSDs. Grouped according to their defective lysosomal proteins and pathways they are usually characterized by intralysosomal accumulation of substrate. Accumulation may occur at different levels in diverse types of cells, some of which are of difficult access. Patient, molecular, cell and tissue heterogeneity hinders the development of further therapeutic approaches. We are currently establishing human Induced Pluripotent Stem Cells (iPSCs) from fibroblasts of LSDs patients and controls. The use of disease-specific cell models, mimicking the cell-target of the specific disease, may help to appropriately study the pathogenesis as well as the therapeutics. Integrating new techniques in the work pipeline for the establishment of models may lead to more accurate models while ensuring the safeguard of the patient’s background. Advanced technologies like microarray and NGS profiling add to the traditional techniques such as Immunofluorescence, directed sequencing and conventional cytogenetics. As in the diagnosis process, we may better understand the prognosis, and contribute to cost avoidance, by combining genomic and protein profiling checkpoints in the cell-model establishment pipeline. The investment in the upstream checkpoints might prove to be helpful in ensuring the integrity of the cell models.pt_PT
dc.description.sponsorshipFCT: PTDC/BIM-MEC/4762/2014 (2016- ongoing)pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6286
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectInherited Diseasespt_PT
dc.subjectInborn Errors of Metabolismpt_PT
dc.subjectCell Modelspt_PT
dc.subjectiPSCspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenética Humanapt_PT
dc.titleUpstream of precise disease models for better downstream decision makingpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceLondon, UKpt_PT
oaire.citation.titleThe International Congress on Advanced Treatments in Rare Diseases, Rare 2018, 2-3 July 2018pt_PT
person.familyNameBorges Duarte
person.familyNameRibeiro
person.familyNameBragança
person.familyNameAmaral
person.givenNameAna Joana
person.givenNameDiogo
person.givenNameJosé
person.givenNameOlga
person.identifier.ciencia-id4F11-0EFD-0103
person.identifier.ciencia-idF713-02C6-1A87
person.identifier.ciencia-idAC1D-FA9D-F66F
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0002-6774-4886
person.identifier.orcid0000-0002-4681-0354
person.identifier.orcid0000-0001-9566-400X
person.identifier.orcid0000-0002-3478-2122
person.identifier.scopus-author-id6602220001
person.identifier.scopus-author-id7004054964
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
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relation.isAuthorOfPublication6ad1465b-6f18-4ca3-9fbd-08e034896dba
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relation.isAuthorOfPublication.latestForDiscovery7a0f8948-5ea9-4446-b71c-1be5a4bedb6d

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