Translational Pediatrics and Clinical Genetics

Head of Research Area
Francesco Emma

The research Area is committed to improving knowledge of genetic diseases, identifying new clinical conditions and understanding their molecular basis and pathogenic mechanisms. Specifically, it deals with the development of new diagnostic tests and care guidelines, with the aim of obtaining translational results. A significant part of the activities is aimed at rare Diseases and diagnosis orphans. 

For more specific areas, within the translational Pediatrics and clinical Genetics Research Area the study of the pathophysiological mechanisms of non-alcoholic fatty liver disease, the pathophysiological mechanisms of nephropathic Cystinosis and immune-mediated kidney diseases, the pathophysiology of acute and chronic liver failure, the study of the molecular and cellular mechanisms responsible for rare bone pathologies are present.

The Area is also committed to identifying new therapeutic strategies, including through experimental therapies, and to studying the pathogenetic mechanisms of growth disorders. It also aims to extend translational research to hereditary metabolic pathologies, to the field of Genodermatoses and other genetic diseases involving the skin and to the field of neuromuscular and neurodegenerative diseases, in order to define new phenotypes and identify new disease genes and aims to identify genetic syndromes at the molecular level.