Closed call · historical reference

H2020-JTI-IMI2-2020-23-two-stage · Shortening the path to Rare Disease diagnosis by using newborn genetic screening and digital technologies

Specific Challenge:Approximately 5,000-8,000 distinct rare diseases (RD) affect 6-8% of the EU population i.e. between 27 and 36 million people; 263-446 million people are affected globall. Despite scientific advances, in Europe, the fact remains that fewer than 10% of RD patients receive treatment…