The text is written by Dr Coralea Stephanou
In July 2025, I had the opportunity to carry out a 4-day Short-Term Scientific Mission (STSM) in Bari, hosted by the Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus (FGB). The STSM was supported by the HELIOS COST Action (CA22119) and organized through the HemaFAIR project, with the aim of initiating a systematic review on the use of Artificial Intelligence (AI) in rare haemoglobinopathies, with a particular focus on ethical and regulatory dimensions.
AI technologies, such as machine learning, predictive models, and clinical decision-support tools, are increasingly applied in healthcare to support prevention, diagnosis, treatment, follow-up, clinical management, and research. However, their use also raises complex ethical and regulatory questions, particularly in rare disease settings where data are limited and clinical pathways are often less standardized.
During the STSM, we refined the research questions, agreed on the methodology, developed the search strategy, and began drafting the review protocol. The review will explore how AI is currently applied in rare haemoglobinopathies and to what extent ethical and regulatory considerations are explicitly addressed. This includes examining whether and how frameworks such as the EU’s Assessment List for Trustworthy Artificial Intelligence (ALTAI) are referenced or applied. The findings aim to guide responsible innovation and inform future research and policy development in the field.
The STSM also included introductory training on the ethical implications of AI, recent regulatory developments, and systematic review methodology. These sessions provided essential context for approaching this topic and laid a solid foundation for the work ahead.
Coming from a background in molecular genetics, this was a valuable opportunity to engage with the ethical and regulatory aspects of emerging technologies, an area not typically central to my day-to-day work. It challenged me to think beyond the lab, to see innovation not just as technical advancement, but as something that must be shaped by ethical awareness and social responsibility.
The mission was hosted by Mr. Fedele Duccio Bonifazi and supported by the dedicated team of Annalisa Landi, Viviana Giannuzzi, Lucia Ruggieri, Silvia Torretta, Sabina Sblano, and Maria Luisa D’alessandro. I am sincerely grateful to them, and to all members of FGB, for their warm hospitality, insightful input, and collegial spirit, which made this a productive and thoroughly enjoyable experience.