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Repositioning of epigenetic modulators to treat core symptoms of autism

7q11.23 duplication syndromeAutism Spectrum DisorderDrug repositioningHDAC inhibitors


Due to its prevalence and the absence of effective treatments, Autism Spectrum Disorder (ASD) represents a major clinical need. Drug repositioning has the potential to provide new therapeutic alternatives through the “new” use of “old” drugs, reducing clinical development time compared to the development of new molecules. Using this approach, the team led by Prof. Giuseppe Testa uncovered that some anti-tumoral drugs are capable of reverting the core symptoms of 7q11.23 duplication syndrome (7DupASD), a rare autistic syndrome, considered paradigmatic of the entire autistic spectrum.

Technical features

Prof. Testa’s group conducted an high-throughput drug screening of 1500 compounds on neurons of the cerebral cortex derived from reprogrammed stem cells of patients affected by 7DupASD, the so called “Disease Avatars”. Three histone deacetylase inhibitors (HDACi) have been identified that are able to reduce, at both transcriptional and protein levels, the expression of the GTF2I gene that is duplicated in 7DupASD patients and has a key pathogenetic role. HDACi are already used in various types of cancers, including brain tumors, and are considered potential treatment for neuropsychiatric disorders. Proof-of-Concept studies are underway to test the efficacy of these inhibitors in additional in vitro models and mouse models characterized by the same genetic alterations as 7DupASD patients. The goal is to develop the first pharmacological treatment to improve the linguistic and social disabilities of 7DupASD patients and other autistic syndromes with convergent genetic alterations and pathogenetic mechanisms

Possible Applications

  • Pharmacological treatment of the main symptoms of 7DupASD;
  • Pharmacological treatment of core symptoms of autistic syndromes characterized by convergence of symptoms, genetic alteration and pathogenetic mechanisms


  • Drugs already used in oncology;
  • First pharmacological treatment for core symptoms of autistic syndromes including 7DupASD;
  • Reference hub and unique know-how for reprogramming of pluripotent stem cells from 7DupASD patients and other autistic syndromes;
  • Unique disease models derived by ASD patients and carrying their same genetic alterations;
  • Active collaboration with the main international clinical centers for the recruitment of 7DupASD patients and other rare autistic syndromes