SCIENTIFIC, TECHNOLOGICAL, AND/OR SOCIOECONOMIC IMPACTS

(INCLUDING POTENTIAL INNOVATIONS AND/OR BREAKTHROUGHS) 

Scientific impact: The Action will overall increase the knowledge on CNPs. Short-term impacts include the homogenization of the diagnostic algorithms and development of common protocols for biological specimen collection, processing, storage and utilization, including experimental analysis, data integration and interpretation, as well as common policies for informed consents and information management in compliance with the European ethics and legal framework, particularly the GDPR. In the long-term, these actions will result in homogenization of mode of operation of patient Registries and Biobanks, facilitating the identification of novel genetic entities, molecular abnormalities and biological processes associated with CNPs. Other long term-impacts include the improved genetic disease characterization of already known and new patients that will result in the development of individualized therapies particularly for patients with subtypes of Congenital Neutropenia; also, the creation of the new generation of CNP experts through education/training activities for young scientists organized within the Action in an international and cross-disciplinary environment. Moreover, the Action will lead to the development of innovative data analytics frameworks with implications for the CNP field and beyond, while also assisting in finding user-acceptable solutions to major challenges in data management from semantic interoperability and consistency to data storage and sharing.

Technological impact: The short-term technological impact concerns the development of standardized protocols for advanced omics (genomics, transcriptomics), clonal dynamics analysis, biochemical, immunology (including immunoprofiling of antigen receptor repertoires by NGS) and flow cytometry techniques for the analysis of CNPs and validated pipelines for data integration, analysis and interpretation. This will be achieved through concerted activities, extending from webinars to study visits and educational (hands-on) workshops, dedicated inter-laboratory quality control assessment. The longterm impact is the potential to commercialize these methodological innovations by the industrial stakeholders through production of novel diagnostic kits for routine lab use, development of novel targetbased drug approaches and novel software for big data analysis with a potential for extension to biomedical domains beyond CNPs.

Socioeconomic impact: The short-term socioeconomic impact of EuNET-INNOCHRON is CNP patients’ empowerment in care through fostering the creation of patient associations and patient advocacy groups; also, the increased funding opportunities of the participants in the Action. In the longterm, the advances in the field of CNP through the Action will result in tangible improvement of patients’ quality of life and disease outcomes. Other long-term impacts include: increased competitiveness of European research and industry through the anticipated entrepreneurial innovation during and beyond the Action; better job opportunities of participating young scientists, through tailored education/training activities, equal opportunities to males and females; improved territorial cohesion and integration of Central-Eastern Europe, in line with the COST policy.

The EuNet-INNOCHRON Action has the potential for scientific innovations/breakthroughs thanks to a carefully planned strategy designed by experienced researchers and clinicians with a scientific focus on CNPs. Based on the expertise in high throughput technologies available in participating Institutions, the availability of Biobanks of well annotated patient samples and the opportunity to prospectively collect relevant samples through networking, the Action envisions identifying novel defects associated with CNPs. The shared use of patient samples from Biobanks and data platforms (in compliance with the ethical and legal framework) within the network will be prioritized according to the innovation of the proposed studies, following a rigorous peer review process by a scientific advisory committee. Complementarity between researchers and laboratories specialized in CNPs and the multi-disciplinary potential consolidated in EuNet-INNOCHRON will facilitate the characterization and validation of the identified defects in CNPs with yet undefined aetiology, concerning biochemical pathways and/or cellular, subcellular, intercellular and immunoregulatory functions. Relevant to mention, identification of candidate target molecules and development of novel techniques for therapeutic intervention using high-throughput drug screening for efficient granulocytic differentiation of iPSC-derived HSCs or establishment of safe and efficient protocols of CRISPR/Cas9-based ex vivo gene correction of patients HSCs will pave the way to the design of innovative individualized therapies that will improve patients’ survival and quality of life. Technological and socioeconomic innovations/breakthroughs mostly pertain to (i) the standardization and validation of analytical protocols and bioinformatics workflows for eventual use in a diagnostic setting, (ii) the improved diagnosis and management of patients with CNPs, (iii) the possibility to conduct multi-centre clinical trials with existing and/or new drugs, both academic and/or supported by pharma. Implicit in the Action’s strategy is the dissemination or research findings to the widest possible audience, including biotechnology and pharmaceutical companies, with a view to the exploitation of innovative results obtained within the network resulting in improved performance and competitiveness of European research and industry.