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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Neurodevelopmental disorders (NDDs) like intellectual disability and autism spectrum disorder manifest in childhood.
  • Over 1,500 genes, including transcriptional regulators and chromatin modifiers, are implicated in NDDs.
  • Genetic factors beyond protein-coding genes, such as RNA, non-coding DNA, and transposable elements, are increasingly recognized.

Purpose of the Study:

  • To review significant progress in understanding the genetic and molecular underpinnings of NDDs.
  • To highlight advancements in neuroimaging for characterizing brain development and pathology.
  • To explore the integration of new technologies for diagnosis, prognosis, and precision medicine in NDDs.

Main Methods:

  • Review of recent scientific literature on NDDs.
  • Analysis of genetic data, including whole-exome sequencing and identification of de novo variants.
  • Application of machine learning to neuroimaging data and development of digital atlases for fetal brain development.

Main Results:

  • Identification of over 1,500 genes involved in NDDs, emphasizing diverse molecular players.
  • Demonstration of how dysregulation of RNA, non-coding DNA, and transposable elements contributes to NDDs.
  • Advancements in in vivo neuroimaging techniques provide novel insights into neuronal cytoarchitecture.

Conclusions:

  • Genetic diagnoses for NDDs are improving, offering critical insights into neuropathology.
  • New approaches, including advanced neuroimaging and genetic analysis, are vital for precision medicine.
  • Understanding fetal brain development is crucial for addressing cognitive functions and NDDs.