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Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies

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.

Call for proposal

H2020-JTI-IMI2-2020-23-two-stage
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Coordinator

UNIVERSITA DEGLI STUDI DI FERRARA
Address
Via Ariosto 35
44121 Ferrara
Italy
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 695 320

Participants (34)

PFIZER LIMITED
United Kingdom
EU contribution
€ 0
Address
Ramsgate Road
CT13 9NJ Sandwich
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
OSPEDALE PEDIATRICO BAMBINO GESU
Italy
EU contribution
€ 629 778,75
Address
Piazza Sant Onofrio 4
00165 Roma
Activity type
Research Organisations
UNIVERSITAETSMEDIZIN GOETTINGEN - GEORG-AUGUST-UNIVERSITAET GOETTINGEN - STIFTUNG OEFFENTLICHEN RECHTS
Germany
EU contribution
€ 931 361,25
Address
Robert-koch-strasse 40
37075 Goettingen
Activity type
Higher or Secondary Education Establishments
UNIVERSITAET BERN
Switzerland
EU contribution
€ 357 156,25
Address
Hochschulstrasse 6
3012 Bern
Activity type
Higher or Secondary Education Establishments
SITEM-INSEL AG
Switzerland
EU contribution
€ 610 717,50
Address
Freiburgstrasse 18
3010 Bern
Activity type
Research Organisations
BULGARIAN ASSOCIATION FOR PROMOTION OF EDUCATION AND SCIENCE
Bulgaria
EU contribution
€ 113 250
Address
Bratya Sveshtarovi Str 4
4017 Plovdiv
Activity type
Other
MAX-PLANCK-GESELLSCHAFT ZUR FORDERUNG DER WISSENSCHAFTEN EV
Germany
EU contribution
€ 342 527,50
Address
Hofgartenstrasse 8
80539 Munchen
Activity type
Research Organisations
UPPSALA UNIVERSITET
Sweden
EU contribution
€ 675 785
Address
Von Kraemers Alle 4
751 05 Uppsala
Activity type
Higher or Secondary Education Establishments
SYDDANSK UNIVERSITET
Denmark
EU contribution
€ 651 996,25
Address
Campusvej 55
5230 Odense M
Activity type
Higher or Secondary Education Establishments
RESEARCH INSTITUTE AG & CO KG
Austria
EU contribution
€ 273 410
Address
Amundsenstrasse 9
1170 Vienna
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
UNIVERSITY COLLEGE DUBLIN, NATIONAL UNIVERSITY OF IRELAND, DUBLIN
Ireland
EU contribution
€ 373 013,75
Address
Belfield
4 Dublin
Activity type
Higher or Secondary Education Establishments
COPENHAGEN BUSINESS SCHOOL
Denmark
EU contribution
€ 62 106,25
Address
Solbjerg Plads 3
2000 Frederiksberg
Activity type
Higher or Secondary Education Establishments
CHARITE - UNIVERSITAETSMEDIZIN BERLIN
Germany
EU contribution
€ 1 049 100
Address
Chariteplatz 1
10117 Berlin
Activity type
Higher or Secondary Education Establishments
EURICE EUROPEAN RESEARCH AND PROJECT OFFICE GMBH
Germany
EU contribution
€ 485 375
Address
Heinrich-hertz-allee 1
66386 St Ingbert
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
UNIVERSITATSKLINIKUM BONN
Germany
EU contribution
€ 1 201 870
Address
Venusberg-campus 1
53127 Bonn
Activity type
Higher or Secondary Education Establishments
BULGARIAN ASSOCIATION FOR PERSONALIZED MEDICINE
Bulgaria
EU contribution
€ 113 471,25
Address
Oborishte District, 45 Bacho Kiro S
1202 Sofia
Activity type
Other
SBA RESEARCH GEMEINNUTZIGE GMBH
Austria
EU contribution
€ 309 750
Address
Floragasse 7, 5 Og
1040 Wien
Activity type
Research Organisations
LUDWIG BOLTZMANN GESELLSCHAFT GMBH
Austria
EU contribution
€ 203 040
Address
Nussdorfer Strasse 64 6 Stock
1090 Wien
Activity type
Research Organisations
UNIVERSITA DEGLI STUDI DI SIENA
Italy
EU contribution
€ 56 045
Address
Via Banchi Di Sotto 55
53100 Siena
Activity type
Higher or Secondary Education Establishments
UNIVERZITA KARLOVA
Czechia
EU contribution
€ 180 985
Address
Ovocny Trh 560/5
116 36 Praha 1
Activity type
Higher or Secondary Education Establishments
FINDZEBRA APS
Denmark
EU contribution
€ 493 646,25
Address
Raadvadsvej 36
2400 Copenhagen
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
GNX DATA SYSTEMS LTD
Israel
EU contribution
€ 392 000
Address
58 Nachlat Benjamin
6578403 Tel Aviv
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
UNIVERSITATSKLINIKUM ERLANGEN
Germany
EU contribution
€ 490 000
Address
Maximiliansplatz 2
91054 Erlangen
Activity type
Higher or Secondary Education Establishments
EURORDIS - EUROPEAN ORGANISATION FOR RARE DISEASES ASSOCIATION
France
EU contribution
€ 736 895
Address
Rue Didot 96
75014 Paris
Activity type
Other
FUNDACIO CENTRE DE REGULACIO GENOMICA
Spain
EU contribution
€ 389 968,75
Address
Carrer Doctor Aiguader 88
08003 Barcelona
Activity type
Research Organisations
ILLUMINA CAMBRIDGE LIMITED
United Kingdom
EU contribution
€ 0
Address
Illumina Centre 19 Granta Park
CB21 6DF Great Abington
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
LYSOGENE
France
EU contribution
€ 0
Address
18-20 Rue Jacques Dulud
92200 Neuilly Sur Seine
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
NOVARTIS PHARMA AG
Switzerland
EU contribution
€ 0
Address
Lichtstrasse 35
4056 Basel
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
NOVO NORDISK A/S
Denmark
EU contribution
€ 0
Address
Novo Alle 1
2880 Bagsvaerd
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
PROQR THERAPEUTICS NV
Netherlands
EU contribution
€ 0
Address
Zernikedreef 9
2333 CK Leiden
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
F. HOFFMANN-LA ROCHE AG
Switzerland
EU contribution
€ 0
Address
Grenzacherstrasse 124
4070 Basel
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
SANOFI-AVENTIS RECHERCHE & DEVELOPPEMENT
France
EU contribution
€ 0
Address
Pierre Brossolette 1
91380 Chilly Mazarin
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
TAKEDA PHARMACEUTICALS INTERNATIONAL AG
Switzerland
EU contribution
€ 0
Address
Thurgauerstrasse 130
8152 Glattpark
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
CONSORZIO FUTURO IN RICERCA
Italy
EU contribution
€ 120 000
Address
Via G Saragat 1 Blocco B
44122 Ferrara
Activity type
Research Organisations