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Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets / Greta PINTACUDA in Molecular Autism, 12 (2021)
[article]
Titre : Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets Type de document : Texte imprimé et/ou numérique Auteurs : Greta PINTACUDA, Auteur ; Jacqueline M. MARTIN, Auteur ; Kevin C. EGGAN, Auteur Article en page(s) : 10p. Langues : Anglais (eng) Mots-clés : Differentiation Npc Neurodevelopment Neurons iPSC (induced-pluripotent stem cells) currently employed at BioMarin Pharmaceutical. Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by impaired social interactions as well as the presentation of restrictive and repetitive behaviors. ASD is highly heritable but genetically heterogenous with both common and rare genetic variants collaborating to predispose individuals to the disorder. In this review, we synthesize recent efforts to develop human induced pluripotent stem cell (iPSC)-derived models of ASD-related phenotypes. We firstly address concerns regarding the relevance and validity of available neuronal iPSC-derived models. We then critically evaluate the robustness of various differentiation and cell culture protocols used for producing cell types of relevance to ASD. By exploring iPSC models of ASD reported thus far, we examine to what extent cellular and neuronal phenotypes with potential relevance to ASD can be linked to genetic variants found to underlie it. Lastly, we outline promising strategies by which iPSC technology can both enhance the power of genetic studies to identify ASD risk factors and nominate pathways that are disrupted across groups of ASD patients that might serve as common points for therapeutic intervention. En ligne : http://dx.doi.org/10.1186/s13229-021-00417-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442
in Molecular Autism > 12 (2021) . - 10p.[article] Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets [Texte imprimé et/ou numérique] / Greta PINTACUDA, Auteur ; Jacqueline M. MARTIN, Auteur ; Kevin C. EGGAN, Auteur . - 10p.
Langues : Anglais (eng)
in Molecular Autism > 12 (2021) . - 10p.
Mots-clés : Differentiation Npc Neurodevelopment Neurons iPSC (induced-pluripotent stem cells) currently employed at BioMarin Pharmaceutical. Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by impaired social interactions as well as the presentation of restrictive and repetitive behaviors. ASD is highly heritable but genetically heterogenous with both common and rare genetic variants collaborating to predispose individuals to the disorder. In this review, we synthesize recent efforts to develop human induced pluripotent stem cell (iPSC)-derived models of ASD-related phenotypes. We firstly address concerns regarding the relevance and validity of available neuronal iPSC-derived models. We then critically evaluate the robustness of various differentiation and cell culture protocols used for producing cell types of relevance to ASD. By exploring iPSC models of ASD reported thus far, we examine to what extent cellular and neuronal phenotypes with potential relevance to ASD can be linked to genetic variants found to underlie it. Lastly, we outline promising strategies by which iPSC technology can both enhance the power of genetic studies to identify ASD risk factors and nominate pathways that are disrupted across groups of ASD patients that might serve as common points for therapeutic intervention. En ligne : http://dx.doi.org/10.1186/s13229-021-00417-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442 Using human pluripotent stem cell models to study autism in the era of big data / Ralda NEHME in Molecular Autism, 11 (2020)
[article]
Titre : Using human pluripotent stem cell models to study autism in the era of big data Type de document : Texte imprimé et/ou numérique Auteurs : Ralda NEHME, Auteur ; Lindy E. BARRETT, Auteur Article en page(s) : 21 p. Langues : Anglais (eng) Mots-clés : Differentiation esc Human brain In vivo Regulatory policy Sample size Variance hPSC iPSC Index. décimale : PER Périodiques Résumé : Advances in human pluripotent stem cell (hPSC) biology coupled with protocols to generate diverse brain cell types in vitro have provided neuroscientists with opportunities to dissect basic and disease mechanisms in increasingly relevant cellular substrates. At the same time, large data collections and analyses have facilitated unprecedented insights into autism genetics, normal human genetic variation, and the molecular landscape of the developing human brain. While such insights have enabled the investigation of key mechanistic questions in autism, they also highlight important limitations associated with the use of existing hPSC models. In this review, we discuss four such issues which influence the efficacy of hPSC models for studying autism, including (i) sources of variance, (ii) scale and format of study design, (iii) divergence from the human brain in vivo, and (iv) regulatory policies and compliance governing the use of hPSCs. Moreover, we advocate for a set of immediate and long-term priorities to address these issues and to accelerate the generation and reproducibility of data in order to facilitate future fundamental as well as therapeutic discoveries. En ligne : http://dx.doi.org/10.1186/s13229-020-00322-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 21 p.[article] Using human pluripotent stem cell models to study autism in the era of big data [Texte imprimé et/ou numérique] / Ralda NEHME, Auteur ; Lindy E. BARRETT, Auteur . - 21 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 21 p.
Mots-clés : Differentiation esc Human brain In vivo Regulatory policy Sample size Variance hPSC iPSC Index. décimale : PER Périodiques Résumé : Advances in human pluripotent stem cell (hPSC) biology coupled with protocols to generate diverse brain cell types in vitro have provided neuroscientists with opportunities to dissect basic and disease mechanisms in increasingly relevant cellular substrates. At the same time, large data collections and analyses have facilitated unprecedented insights into autism genetics, normal human genetic variation, and the molecular landscape of the developing human brain. While such insights have enabled the investigation of key mechanistic questions in autism, they also highlight important limitations associated with the use of existing hPSC models. In this review, we discuss four such issues which influence the efficacy of hPSC models for studying autism, including (i) sources of variance, (ii) scale and format of study design, (iii) divergence from the human brain in vivo, and (iv) regulatory policies and compliance governing the use of hPSCs. Moreover, we advocate for a set of immediate and long-term priorities to address these issues and to accelerate the generation and reproducibility of data in order to facilitate future fundamental as well as therapeutic discoveries. En ligne : http://dx.doi.org/10.1186/s13229-020-00322-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427