Finanziamento della Ricerca
Informazioni dettagliate sulla procedura
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.
The overall objective of this call topic is to shorten the path to RD diagnosis by using newborn / paediatric (infants during their first weeks of life) genetic screening; and, via application of advanced digital technologies that enable rare disease diagnosis / identification. The latter might require consolidation of existing fragmented efforts.
The specific objectives are:
a) Repurposing of pre-existing diagnosis AI algorithm to identify early onset RD patients in electronic health records (EHRs). This will include at least 3 pilots in better-known rare diseases (with the understanding that solutions and algorithms developed or adapted should be amenable or made amenable to be emulated for larger sets of better-known RDs) where more robust data is available to train and test the AI algorithm(s), and / or;
b) Design and development of new AI algorithm(s) to achieve the above goal.
Scadenza presentazione domande: 29/9/2020
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