Skip to main content
Weiter zur Homepage der Europäischen Kommission (öffnet in neuem Fenster)
Deutsch de
CORDIS - Forschungsergebnisse der EU
CORDIS

NEW STRATEGIES FOR THE EARLY DIAGNOSIS, RISK STRATIFICATION AND CO-MANAGEMENT OF FAMILIAL HYPERCHOLESTEROLEMIA

Ziel

Familial hypercholesterolemia (FH) is the most common inherited metabolic disorder in the world with about 2.5 million Europeans affected. An accurate diagnosis through genetic testing confirms the disorder in only about 50% of the cases. Different effective treatments to reduce cardiovascular disease exist; however these high-risk individuals are not being clinically identified. FH-EARLY will enable new strategies for earlier diagnosis and co-management of familial hypercholesterolemia facilitated by well-defined data flows, identifying new mechanisms through multiomics, explainable AI modelling and co-creation with families with FH and caregivers. Its specific objectives are:

1. Use co-creation methods to involve FH patients, families and care teams during the project.
2. Enhance 4 federated multi-modal datasets collated from established cohorts, and realworld datasets.
3. Conduct large-scale functional characterization of FH-related gene variants, to illuminate affected protein function and the variability of the FH phenotype
4. Develop and test an integrative precision health profiling methodology using explainable AI for FH risk prediction.
5. Test and validate a new chip array for early diagnosis
6. Establish clinical and health economic benefits for the signature biomarker in a multicenter interventional study for FH screening.
7. Integrate the early signature biomarker into clinical practice to improve treatment selection and risk assessment of FH and severe hypercholesterolemia patients

FH-EARLY will deliver a chip array for earlier, cheaper diagnosis, a signature biomarker assay for unique risk stratification and a XAI driven integrative precision health profiling tool. These will help reduce the burden of atherosclerotic cardiovascular disease, while shifting towards a holistic co-management approach including healthier living in families with FH. This will have a significant impact on cardiovascular health for families with FH and the wider population

Wissenschaftliches Gebiet (EuroSciVoc)

Dieses Projekt wurde noch nicht bei EuroSciVoc klassifiziert.
Schlagen Sie die Wissenschaftsbereiche vor, die Ihrer Einschätzung nach besonders relevant sind, und helfen Sie uns, unseren Klassifizierungsdienst zu verbessern.

Schlüsselbegriffe

Programm/Programme

Thema/Themen

Finanzierungsplan

HORIZON-RIA - HORIZON Research and Innovation Actions

Alle im Rahmen dieses Finanzierungsinstruments finanzierten Projekte anzeigen

Aufforderung zur Vorschlagseinreichung

(öffnet in neuem Fenster) HORIZON-HLTH-2024-DISEASE-03-two-stage

Alle im Rahmen dieser Aufforderung zur Einreichung von Vorschlägen finanzierten Projekte anzeigen

Koordinator

Associação para Investigação e Desenvolvimento da Faculdade de Medicina
Netto-EU-Beitrag
€ 885 312,50
Adresse
Av. Prof. Egas Moniz
1649-028 Lisbon
Portugal
Aktivitätstyp
Higher or Secondary Education Establishments
Links
Gesamtkosten
Keine Daten

Beteiligte (14)