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SCREEN4CARE

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Shortening the path to rare disease diagnosis by using newborn genetic screening...

Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies 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 genet... ver más

30/09/2026

Unife

26M€

Presupuesto del proyecto: 26M€

Líder del proyecto

UNIVERSITA DEGLI STUDI DI FERRARA No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Ver 42 Participantes

Financiación concedida El organismo H2020 notifico la concesión del proyecto el día 2021-10-13

IMI2-2020-23-05: Shortening the path to Rare Disease...

I+D

Cerrada hace 4 años

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Información adicional privada

No hay información privada compartida para este proyecto. Habla con el coordinador.

42 Participantes

Unife

691.79K€ | Lider

SALICRU

648.48K€ | Participante

FONDAZIONE WWF MEDITERRANEAN

753.85K€ | Participante

RESEARCH INSTITUTE AG CO KG

273.41K€ | Participante

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Duración del proyecto: 59 meses Fecha Inicio: 2021-10-13
Fecha Fin: 2026-09-30

Líder del proyecto

UNIVERSITA DEGLI STUDI DI FERRARA No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Presupuesto del proyecto 26M€

Descripción del proyecto 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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