Neurodevelopmental disorders: 2024 update

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  • dc.contributor.author Martínez de Lagrán Cabredo, María
  • dc.contributor.author Bascón-Cardozo, Karen
  • dc.contributor.author Dierssen, Mara
  • dc.date.accessioned 2025-11-14T14:26:16Z
  • dc.date.available 2025-11-14T14:26:16Z
  • dc.date.issued 2024
  • dc.date.updated 2025-11-14T14:26:16Z
  • dc.description.abstract 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.
  • dc.description.sponsorship 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.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Martínez de Lagrán M, Bascón-Cardozo K, Dierssen M. Neurodevelopmental disorders: 2024 update. Free Neuropathol. 2024 Sep 5:5:20. DOI: 10.17879/freeneuropathology-2024-5734
  • dc.identifier.doi http://dx.doi.org/10.17879/freeneuropathology-2024-5734
  • dc.identifier.issn 2699-4445
  • dc.identifier.uri http://hdl.handle.net/10230/71884
  • dc.language.iso eng
  • dc.publisher University of Münster
  • dc.relation.ispartof Free neuropathology. 2024;5:20
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/3PE/PID2022-141900OB-I00
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/899986
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/848077
  • dc.rights © 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.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword Down syndrome
  • dc.subject.keyword Epigenetics
  • dc.subject.keyword Gene regulation
  • dc.subject.keyword Neurogenesis
  • dc.subject.keyword Neuronal differentiation
  • dc.subject.keyword Retrotransposons
  • dc.title Neurodevelopmental disorders: 2024 update
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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