Neurodevelopmental disorders: 2024 update

Authors

  • María Martínez de Lagrán Center for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona 08003, Spain
  • Karen Bascón-Cardozo Center for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona 08003, Spain
  • Mara Dierssen Center for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona 08003, Spain; Universitat Pompeu Fabra (UPF), Barcelona 08002, Spain; Biomedical Research Networking Center for Rare Diseases (CIBERER), Barcelona 08003, Spain; Hospital del Mar Research Institute, Barcelona 08003, Spain

DOI:

https://doi.org/10.17879/freeneuropathology-2024-5734

Keywords:

Neuronal differentiation, Epigenetics, Retrotransposons, Neurogenesis, Gene regulation, Down syndrome

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.

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Published

2024-09-05

How to Cite

Martínez de Lagrán, M., Bascón-Cardozo , K., & Dierssen, M. (2024). Neurodevelopmental disorders: 2024 update. Free Neuropathology, 5, 20. https://doi.org/10.17879/freeneuropathology-2024-5734

Issue

Section

Reviews