Project description
Fast-tracking rare disease diagnosis and treatment
There are more than 7 000 known rare diseases, conditions that affect no more than 1 person in 2 000. Collectively, these conditions that impact up to 36 million people across the EU and will affect 1 in 17 people during their lifetime, are often severe, multisystemic chronic diseases that put patients at risk of permanent organ damage and degeneration. Patients typically face an arduous journey to a proper diagnosis. In this context, the EU-funded SCREEN4CARE project aims to shorten the time to diagnosis and treatment of patients with rare diseases. Bringing together 35 partners in an international public-private consortium, the project will use a multipronged strategy that includes genetic newborn screening and AI-based algorithms to identify patients at early disease onset.
Objective
In the EU alone, according to the Orphanet DB (https://pubmed.ncbi.nlm.nih.gov/31527858/) 30 million persons, 3,5-6% of the general population, are affected by one of the 6,172 different rare diseases (RDs) of which 72% are genetic and 70% affect children. The path to diagnosis for people suffering from a RD is burdensome, often severely delayed by a diagnostic odyssey. Lack of timely diagnosis affects disease management, family planning, identification of potential beneficial treatments and / or clinical trials. This unacceptable situation does not meet the concept of equity for EU citizens, and requires rapid, structured, and cost-effective corrective actions. The Screen4Care (S4C) consortium will leverage the genomic and digital advent to develop and pilot genetic NBS and AI-guided symptom recognition algorithms, while accounting for all relevant legal, regulatory and ethical considerations. S4C aims to harmonize the results of existing efforts in a horizon scan, by looking at the totality of the available data resources, diagnostic algorithms, and other initiatives with similar ultimate goals.
The genetic NBS will interrogate 1) currently treatable RDs (TREAT-map gene panel), 2) actionable RDs (ACT-map gene panel) in 18.000 new-borns in 3 EU countries (D, It, and Cz). Further, S4C will offer whole genome sequencing (WGS) to early symptomatic babies, tested negatively during panel-based NBS to identify known NBS-escaped RDs and novel genes/phenotypes.
S4C will also provide two digital diagnosis support systems for RD on the basis of features and symptom complexes: 1) federated ML- and literature-evidence-based algorithm for continuous and automated screening of EHR and 2) meta symptom checker with virtual clinics for patients and HCP offering the possibility of increased accuracy of diagnosis and ongoing supports. Our ambitious goal is to evaluate the validity of our multi-pronged approach to shorten the time to diagnosis for all patients affect by RDs, improve value-based healthcare resource utilization, and hopefully reduce the suffering of millions of European citizens.
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Funding Scheme
RIA - Research and Innovation actionCoordinator
44121 Ferrara
Italy
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Participants (36)
CT13 9NJ Sandwich
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00165 Roma
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37075 Goettingen
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3012 Bern
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3010 Bern
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
4017 Plovdiv
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
80539 Munchen
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751 05 Uppsala
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5230 Odense M
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1170 Wien
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
4 Dublin
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2000 Frederiksberg
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10117 Berlin
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66386 St Ingbert
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
Participation ended
53127 Bonn
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1202 Sofia
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1040 Wien
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1090 Wien
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53100 Siena
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116 36 Praha 1
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2400 Copenhagen
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
6578403 Tel Aviv
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
91054 Erlangen
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75014 Paris
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08003 Barcelona
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CB21 6DF Great Abington
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92200 Neuilly Sur Seine
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
4056 Basel
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2880 Bagsvaerd
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2333 CK Leiden
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
4070 Basel
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94250 GENTILLY
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8152 Glattpark
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44122 Ferrara
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79106 Freiburg
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D02R296 DUBLIN
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