Jacobs Journal of Genetics

Towards the Identification of Genetic Targets for Therapeutics of Intellectual Disability in Down syndrome

Published on: 2018-11-02


Down syndrome, or Trisomy 21, is the most frequent genetic cause of the intellectual disability, a cognitive disorder with hard impact on public health. The expression of this feature is due to the overexpression of the human chromosome 21 genes. The genetic dissection of the Down syndrome neurological phenotypes in trisomic mouse models greatly enhanced our understanding of cellular and molecular mechanisms of gene dosage effects and the associated signalling pathways involved in the morphological and functional brain alterations, and in the pathogenesis of intellectual disability towards the identification of molecular targets for clinical therapeutics.