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.