Diagnostic autoantibody assay to stratify bone marrow failure diseases - ERC Proof of Concept Grant to Professor Satu Mustjoki

Professor Satu Mustjoki, University of Helsinki, received ERC Proof of Concept Grant to explore the commercial or societal potential of her ERC-funded frontier research results.

Proof of Concept (PoC) grants, worth €150,000 each, can be used for example to explore business opportunities, prepare patent applications or verify the practical viability of scientific concepts.

Professor Satu Mustjoki received in 2015 ERC Consolidator Grant for her research project concerning aberrant immune responses, and bone marrow failure syndromes (BMFS) were one of the studied diseases. They are a heterogenous group of rare diseases that manifest as the loss of red and white blood cells. Aplastic anaemia (AA) is one of these diseases.

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 the similar genetic background suggesting common pathogenesis, professor Mustjoki tells.

– Our preliminary results show that the autoantibody analysis has great potential to detect AA cases and define a subset of other BMFS patients with similar underlying pathology that currently lack proper diagnosis. Furthermore, significant commercialisation potential lies in introducing it as an exclusion laboratory test on patients with unexplained anaemia or leukopenia which are common problems in elderly.

Mustjoki and her research group 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, the group will carry out additional validation and confirmation assays, and 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.

– 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 about the role of target protein of the autoantibody in bone marrow failure may lead to targeted therapies in the future, Mustjoki states.

Mustjoki leads Translational immunology research program (TRIMM) at the Faculty of Medicine, University of Helsinki and she is one of the HiLIFE Fellows of the Helsinki Institute of Life Science. Mustjoki’s research group is also a part of the iCAN Digital Precision Cancer Medicine cluster, which belongs to the Finnish Flagship Program of the Academy of Finland.

Additional information:
Professor Satu Mustjoki, University of Helsinki and Helsinki University Hospital (HUS)
Tel. +358 9 4717 1898
Email: satu.mustjoki@helsinki.fi
Hematology Research Unit

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