Neurodevelopmental disorders: 2024 update

Neurodevelopmental disorders encompass a range of conditions such as intellectual disability, autism spectrum disorder, rare genetic disorders and developmental and epileptic encephalopathies, all manifesting during childhood. Over 1,500 genes involved in various signaling pathways, including numero...

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Autores: Martínez de Lagrán Cabredo, María, Bascón-Cardozo, Karen, Dierssen, Mara
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/71884
Acceso en línea:http://hdl.handle.net/10230/71884
http://dx.doi.org/10.17879/freeneuropathology-2024-5734
Access Level:acceso abierto
Palabra clave:Down syndrome
Epigenetics
Gene regulation
Neurogenesis
Neuronal differentiation
Retrotransposons
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spelling Neurodevelopmental disorders: 2024 updateMartínez de Lagrán Cabredo, MaríaBascón-Cardozo, KarenDierssen, MaraDown syndromeEpigeneticsGene regulationNeurogenesisNeuronal differentiationRetrotransposonsNeurodevelopmental disorders encompass a range of conditions such as intellectual disability, autism spectrum disorder, rare genetic disorders and developmental and epileptic encephalopathies, all manifesting during childhood. Over 1,500 genes involved in various signaling pathways, including numerous transcriptional regulators, spliceosome elements, chromatin-modifying complexes and de novo variants have been recognized for their substantial role in these disorders. Along with new machine learning tools applied to neuroimaging, these discoveries facilitate genetic diagnoses, providing critical insights into neuropathological mechanisms and aiding in prognosis, and precision medicine. Also, new findings underscore the importance of understanding genetic contributions beyond protein-coding genes and emphasize the role of RNA and non-coding DNA molecules but also new players, such as transposable elements, whose dysregulation generates gene function disruption, epigenetic alteration, and genomic instability. Finally, recent developments in analyzing neuroimaging now offer the possibility of characterizing neuronal cytoarchitecture in vivo, presenting a viable alternative to traditional post-mortem studies. With a recently launched digital atlas of human fetal brain development, these new approaches will allow answering complex biological questions about fetal origins of cognitive function in childhood. In this review, we present ten fascinating topics where major progress has been made in the last year.The lab of M.D. acknowledges financial support from the Spanish Ministry of Science and Innovation (projects CPP2022-009659 and RTC2019-007329-1), the Spanish State Research Agency (project INTO-DS, reference PID2022-141900OB-I00), the Marato-TV3 Foundation (202212-30-31-32), and the European Comission Horizon 2020 programme (projects H2020-899986 and GO-DS21-848077). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The CRG acknowledges the support of the Spanish Ministry of Science and Innovation to the EMBL partnership, the Centro de Excelencia Severo Ochoa, and the CERCA Programme/Generalitat de Catalunya. The CIBER of Rare Diseases (CIBERER) is an initiative of ISCIII.University of Münster2025202520242025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/71884http://dx.doi.org/10.17879/freeneuropathology-2024-5734http://hdl.handle.net/10230/71884reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésFree neuropathology. 2024;5:20info:eu-repo/grantAgreement/ES/3PE/PID2022-141900OB-I00info:eu-repo/grantAgreement/EC/H2020/899986info:eu-repo/grantAgreement/EC/H2020/848077© 2024 The author(s). This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited, a link to the Creative Commons license is provided, and any changes are indicated. The Creative Commons Public Domain Dedication waiver (https://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/718842026-05-29T05:05:01Z
dc.title.none.fl_str_mv Neurodevelopmental disorders: 2024 update
title Neurodevelopmental disorders: 2024 update
spellingShingle Neurodevelopmental disorders: 2024 update
Martínez de Lagrán Cabredo, María
Down syndrome
Epigenetics
Gene regulation
Neurogenesis
Neuronal differentiation
Retrotransposons
title_short Neurodevelopmental disorders: 2024 update
title_full Neurodevelopmental disorders: 2024 update
title_fullStr Neurodevelopmental disorders: 2024 update
title_full_unstemmed Neurodevelopmental disorders: 2024 update
title_sort Neurodevelopmental disorders: 2024 update
dc.creator.none.fl_str_mv Martínez de Lagrán Cabredo, María
Bascón-Cardozo, Karen
Dierssen, Mara
author Martínez de Lagrán Cabredo, María
author_facet Martínez de Lagrán Cabredo, María
Bascón-Cardozo, Karen
Dierssen, Mara
author_role author
author2 Bascón-Cardozo, Karen
Dierssen, Mara
author2_role author
author
dc.subject.none.fl_str_mv Down syndrome
Epigenetics
Gene regulation
Neurogenesis
Neuronal differentiation
Retrotransposons
topic Down syndrome
Epigenetics
Gene regulation
Neurogenesis
Neuronal differentiation
Retrotransposons
description Neurodevelopmental disorders encompass a range of conditions such as intellectual disability, autism spectrum disorder, rare genetic disorders and developmental and epileptic encephalopathies, all manifesting during childhood. Over 1,500 genes involved in various signaling pathways, including numerous transcriptional regulators, spliceosome elements, chromatin-modifying complexes and de novo variants have been recognized for their substantial role in these disorders. Along with new machine learning tools applied to neuroimaging, these discoveries facilitate genetic diagnoses, providing critical insights into neuropathological mechanisms and aiding in prognosis, and precision medicine. Also, new findings underscore the importance of understanding genetic contributions beyond protein-coding genes and emphasize the role of RNA and non-coding DNA molecules but also new players, such as transposable elements, whose dysregulation generates gene function disruption, epigenetic alteration, and genomic instability. Finally, recent developments in analyzing neuroimaging now offer the possibility of characterizing neuronal cytoarchitecture in vivo, presenting a viable alternative to traditional post-mortem studies. With a recently launched digital atlas of human fetal brain development, these new approaches will allow answering complex biological questions about fetal origins of cognitive function in childhood. In this review, we present ten fascinating topics where major progress has been made in the last year.
publishDate 2024
dc.date.none.fl_str_mv 2024
2025
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/71884
http://dx.doi.org/10.17879/freeneuropathology-2024-5734
http://hdl.handle.net/10230/71884
url http://hdl.handle.net/10230/71884
http://dx.doi.org/10.17879/freeneuropathology-2024-5734
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Free neuropathology. 2024;5:20
info:eu-repo/grantAgreement/ES/3PE/PID2022-141900OB-I00
info:eu-repo/grantAgreement/EC/H2020/899986
info:eu-repo/grantAgreement/EC/H2020/848077
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv University of Münster
publisher.none.fl_str_mv University of Münster
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
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