Objective
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
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Keywords
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Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
Programme(s)
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Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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HORIZON.2.1 - Health
MAIN PROGRAMME
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HORIZON.2.1.3 - Non-Communicable and Rare Diseases
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Topic(s)
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Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Funding Scheme
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Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
HORIZON-RIA - HORIZON Research and Innovation Actions
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Call for proposal
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Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
(opens in new window) HORIZON-HLTH-2024-DISEASE-03-two-stage
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Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.
1649-028 Lisbon
Portugal
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Participants (14)
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28046 MADRID
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00014 Helsinki
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1033 RT Amsterdam
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032266 Bucharest
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1649-016 Lisboa
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601 77 Brno
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1104 2020 Beirut
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75006 Paris
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00290 Helsinki
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
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2333 ZA Leiden
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3526 KV Utrecht
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06800 Cankaya Ankara
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35100 İzmir
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75012 Paris
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