Periodic Reporting for period 1 - SCREEN4CARE (Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies)

There are over 7000 rare diseases resulting in 30 million Patients in Europe with a Rare Disease (RD) and globally 250 million Patients are affected. Being 75% of RDs of genetic origin, genetic diagnosis is compulsory patients can enter into an appropriate and often...