Project description
Diagnostic test for bone marrow failure disease
Bone marrow failure syndrome (BMFS) refers to a heterogeneous group of rare diseases characterised by the loss of red and white blood cells as a result of blood stem-cell malfunction. The EU-funded STRATIFY project aims to develop a BMFS test using an inexpensive reagent kit and standard serology machines for autoantibody screening. Project researchers previously identified an autoantibody that defined a distinct group of BMFS patients with similar genetic backgrounds, suggesting common pathogenesis. The autoantibody analysis was able to reveal cases of aplastic anaemia and define a subset of BMFS patients with similar underlying pathology that lacks diagnosis as yet. Current objectives are establishing technology proof-of-concept and evaluating commercialisation options.
Objective
Bone marrow failure syndromes (BMFS) such as aplastic anaemia (AA) are a heterogenous group of rare diseases that manifest as loss of red and white blood cells. In these potentially life-threatening diseases, blood producing stem cells may be inherently defective or become destroyed due to acquired cause. Diagnostic difficulties of BMFS constitute a significant clinical problem as the diagnosis takes long, and misdiagnosis may lead to inappropriate management with serious side effects.
In our ERC-CoG project we made an exciting discovery and identified a novel autoantibody in AA patients’ blood samples. Autoantibody positivity defined a distinct group of patients with similar genetic background suggesting common pathogenesis. Our preliminary results show that the autoantibody analysis has great potential to reveal cases of AA and define a subset of other BMFS patients with similar underlying pathology that currently lack proper diagnosis. Furthermore, vast commercialisation potential lies in introducing it as an exclusion laboratory test in patients with unexplained anaemia or leukopenia (common problems in elderly).
The improved diagnostic accuracy and the targeted personalised therapy that follows has the potential to impact the lives of hundreds of thousands of patients over time and bring simultaneous healthcare savings. Further, understanding of the role of target protein of the autoantibody in bone marrow failure may lead to targeted therapies in the future.
We believe that the test can be developed as an inexpensive reagent kit to be used in serology machines for autoantibody screening. In order to improve the commercialisation potential, we will carry out 1) Technology PoC for confirming the approach validity, and 2) Pre-commercialisation actions for evaluating the best commercialisation options for bringing the innovation to clinicians managing haematological patients and for pharma companies as companion diagnostic tests together with their therapies.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences biological sciences biochemistry biomolecules proteins
- medical and health sciences medical biotechnology cells technologies stem cells
- medical and health sciences basic medicine pathology
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC)
MAIN PROGRAMME
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Topic(s)
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.
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
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.
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.
ERC-POC-LS - ERC Proof of Concept Lump Sum Pilot
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Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
(opens in new window) ERC-2019-PoC
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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.
00014 HELSINGIN YLIOPISTO
Finland
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.