BOAGLIO A.

Undiagnosed rare diseases include diseases with a well-characterised phenotype, diseases with unknown molecular causes or due to non-genetic factors, and pathological condition that cannot be named. Several initiatives have been launched for healthcare of patients with undiagnosed rare diseases. A project for development of medical records with...

Results of two major projects funded by the European Union are taken into consideration: Fair4Health regarding the possibility of sharing clinical data in various environments applying FAIR principles and 1+Million Genome for the in-depth study of the human genome in Europe. Specifically, the Gaslini hospital plans to move on both areas joining...