Shortening the path to Rare Disease diagnosis by using newborn genetic screening and digital technologies (2nd stage)


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IMI2 - Innovative Medicines Initiative 2016

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PJE_Projectes Europeus


  • Grups de Recerca (GRU)
  • Investigadors/es (INV)


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 and only 1% are managed using an approved treatment. Delivering effective treatments to RD patients where the prevalence is low has been described as one of the major global health challenges of the 21st century. One of the main challenges for RDs is related to diagnosis because RDs are characterised by a broad diversity of syndromic disorders and symptoms that vary from disease to disease and from patient to patient suffering from the same disease. In isolation, these symptoms can be very common, leading to misdiagnosis. Altogether, this leads to a lengthy and burdensome path to diagnosis that can take, on average, take eight years, often involving pointless treatments, creating a heavy human and societal burden that could be avoided by earlier diagnosis.

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