Genetics and Rare Diseases Area

The “Genetics and Rare Diseases” research area is comprised of six groups, all involved in the research on rare diseases affecting pediatric patients. Although, the research fields are diverse, some common features are shared: all the groups have a long-standing tradition in their respective fields, they combine research and diagnostic activities, which are often tightly linked, and they are all directly involved in the European Reference Networks (ERN) such as ITHACHA (congenital malformations and intellectual disability), GENTURIS (rare genetic tumors), ERKnet (renal diseases), and MetabERN (metabolic diseases).
They employ personnel from both University of Padua and the Azienda Ospedale Università Padova, as well as personnel paid on IRP grants. The laboratories host several PhD students as well as the residents of the medical genetics program.