Fostering F.A.I.R. Data and Standards in Rare Hematological Diseases

ongoing

Research on rare diseases (RDs) is scarce and fragmented in the EU, leading to delayed diagnoses, limited availability of medicinal products and challenging access to care. Like in most RDs, data-driven research on rare haematological diseases (RHDs) is affected by the lack of data standardisation and the fragmentation of available data in close repositories. Adhering to the principle of making data findable, accessible, interoperable and reusable (FAIR) is pivotal in fostering collaborative research and maximising the potential of available data. FAIR principles are especially relevant in the context of RD research, as their use can help to tackle data fragmentation and accelerate scientific discoveries. HemaFAIR aims to unravel the scientific excellence and innovation potential of a Widening country (Cyprus), through an EU network of excellence on the use of FAIR principles in RHD research. As a reference centre for most RDs in Cyprus, the Cyprus Institute of Neurology & Genetics (CING) can serve as a model for raising the scientific profile and competitiveness of Cyprus in RDs/RHDs and biomedical informatics and strengthening the research management and administrative skills. HemaFAIR brings together key experts in RHD research, biomedical informatics, patient-centred research and ethics and regulatory issues. HemaFAIR will develop and implement a comprehensive training programme and numerous capacity-building and strategic networking activities, including summer schools, workshops, webinars, and transferrable skills lectures. Also, HemaFAIR will raise the profile of early-career researchers via the development of a mentoring programme, short-term staff exchanges and three collaborative research projects. Notably, the research component of HemaFAIR will demonstrate the FAIRification process on two existing platforms for haemoglobinopathies, a group of RHDs that are particularly prevalent in Cyprus, thus maximising the impact of the project on the local society.