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The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, an innovative method for in vitro genetic disease modeling of a rare neurological disorder

2022-06Conference object Restricted access
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dc.contributor.authorCarvalho, Sofia
dc.contributor.authorSantos, Juliana Inês
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorMoreira, Luciana
dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorEncarnação, Marisa
dc.contributor.authorGaspar, Paulo
dc.contributor.authorGonçalves, Mariana
dc.contributor.authorMatos, Liliana
dc.contributor.authorPrata, Maria João
dc.contributor.authorLuísa, Pereira de Almeida
dc.contributor.authorCoutinho, Maria Francisca
dc.contributor.authorAlves, Sandra
dc.date.accessioned2023-10-12T10:33:52Z
dc.date.available2023-10-12T10:33:52Z
dc.date.issued2022-06
dc.descriptionAbstract disponibilizado: https://www.impsg2022.uevora.pt/wp-content/uploads/2022/06/Livro-de-Abstracts-IIIIMPSG_2022_draft-version.pdfpt_PT
dc.description.abstractThe development of adequate in vitro disease models is a major issue in Biomedical Genetics. Those models allow for the initial screening of novel therapeutics and help us get an insight on the cellular mechanisms that underly pathology in each case. In fact, one of the best ways to get those insights is the analysis of patient-derived cells. Yet, not every cell holds potential to recapitulate relevant disease features. For neurodegenerative diseases in particular, it is challenging to grow neuronal cultures that accurately represent them because of the obvious inability to access live neurons. This scenario changed significantly when induced pluripotent stem cells (iPSC) were first described. From then on several differentiation protocols to generate neurons from iPSC were developed. Still, iPSC generation is a laborious/expensive protocol with significant limitations in terms of production and subsequent uses. Here we present an alternative to establish patient-derived neuronal cells in a much more expedite way. We are taking advantage of the existence of a population of multipotent stem cells (SC) in human dental pulp, the dental pulp stem cells (DPSC), to establish mixed neuronal and glial cultures for a rare neurological genetic disorder: the Sanfilippo syndrome. Sanfilippo-derived DPSC have never been used for differentiation into specific cell types even though they represent a natural source of SC that may be used to investigate human disease especially for the infantile forms. This is a total innovation in the field and we believe it holds potential to set a new trend for investigating the cellular/gene expression changes that occur in Sanfilippo and other related diseases as it relies on a non-invasive, cost-effective approach that can be set as a routine in any lab with standard cell culture conditions. Ultimately, the same method may be applied for virtually any monogenic disorder with neurological presentation.pt_PT
dc.description.sponsorshipThis work is partially supported by the Portuguese Society for Metabolic Disorders (SPDM - Bolsa SPDM de apoio à investigação Dr. Aguinaldo Cabral 2018; 2019DGH1629/SPDM2018I&D), Sanfilippo Children's Foundation (2019DGH1656/SCF2019I&D) and FCT (EXPL/BTM-SAL/0659/2021).pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8715
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relationNeurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
dc.subjectRare Neurological Disorderpt_PT
dc.subjectNeurodegenerative Diseasept_PT
dc.subjectGenetic Diseasept_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenética Humanapt_PT
dc.titleThe 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, an innovative method for in vitro genetic disease modeling of a rare neurological disorderpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardTitleNeurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/EXPL%2FBTM-SAL%2F0659%2F2021/PT
oaire.citation.conferencePlaceÉvora, Portugalpt_PT
oaire.citation.titleIII International Meeting of the Portuguese Society of Genetics, 27-28 June 2022pt_PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsclosedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublication41df0cc8-c7fb-435b-83d5-9e2249fcc86d
relation.isProjectOfPublication.latestForDiscovery41df0cc8-c7fb-435b-83d5-9e2249fcc86d

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