Clinical Genetics and Dysmorphology


Head of Research Unit
Maria Cristina Digilio

The activity of the Research Unit is aimed at characterizing genetic syndromes at the molecular level and at defining their natural history.

Among the historically studied genetic pathologies there are Noonan syndrome and other Rasopathies, 22q11.2 Deletion, overgrowth syndromes, cohesinopathies/chromatinopathies (Kabuki, KGB syndromes and others), skeletal dysplasias, hypercholesterolemia. 

With the evolution of laboratory molecular genetic techniques, research has expanded to the clinical characterization and definition of care protocols of new genetic syndromes caused by variants in newly identified genes.

The team of researchers of the Clinical Genetics and Dysmorphology Unit is made up of medical geneticists who are experts in genetic syndromes, in congenital malformation pathologies and in syndromic and non-syndromic intellectual disabilities and by pediatric doctors who are experts in rare diseases.

“The dream of Bambino Gesù Hospital,
the dream of the Pope, is to help bring
science and humanity to all children with
very severe diseases who need to be treated”
Pope Francis