Using diverse omics approaches and multiscale disease modelling, Human Technopole researchers uncovered the effects of 7q11.23 CNV, a section of chromosome 7  on neuronal differentiation, gene expression, protein synthesis, and intrinsic neuronal excitability in two neurodevelopmental disorders (i.e., Williams-Beuren and 7q microduplication syndromes). The research results are published in The Journal of Clinical Investigation.

Engineering a parasite, Toxoplasma gondii, which is naturally suited to cross the blood-brain barrier and enter neuronal cells, so that it can deliver therapeutic proteins to the central nervous system: this is the result of a study by an international group of scientists, including researchers from the University of Milan and Human Technopole, recently published in Nature Microbiology.

In collaboration with an international team of scientists, HT researchers identified a missense mutation in a gene involved in brain-intrinsic immunity as the genetic cause of SARS-CoV-2 brainstem encephalitis.

A study by Human Technopole, the Institute of Cancer Research and the Royal Marsden NHS Foundation Trust in London has shown that in prostate cancer the presence in the same tumour of cells with large differences in shape and genetic composition indicates an increased risk of relapse, including after a decade. The study may help doctors better tailor treatment for this disease, adopting more aggressive therapies in cases where these parameters indicate a higher risk of disease recurrence.