Terminological Analysis of Innovative Therapeutic Approaches of Cystic Fibrosis

Cystic fibrosis is a rare genetic disease with significant global prevalence, profoundly affecting patients’ quality of life. Despite its impact, cystic fibrosis remains underdiagnosed and inadequately treated in many countries. This thesis conducts a terminological analysis centered on three recent innovative therapies for cystic fibrosis: gene therapy, gene editing, and CFTR modular therapy. The study seeks to enhance disease awareness to improve healthcare delivery and support advocacy by developing a bilingual conceptual system and lexical networks in Italian and English. The project encompasses 76 concepts, 145 English and 127 Italian terms, identified through a combined onomasiological and semasiological approach using the automatic term extraction tool Sketch Engine from specialized medical corpora created ad-hoc for this study. The concept entries were compiled in the terminological resource FAIRterm 2.0, adhering to the FAIR principles (Findable, Accessible, Interoperable, Reusable). The resulting bilingual terminological analysis addresses translators and healthcare stakeholders by promoting correct and standardized terminology and facilitating knowledge dissemination to potentially reduce global disparities in cystic fibrosis management. The project highlights a high degree of terminological standardization, frequent acronym usage, and several context-dependent quasi-synonymy across both languages. Limitations arise from the evolving nature of the therapies examined, with gene therapy and gene editing less extensively explored due to their recent development and ongoing clinical refinement. Indeed, this terminological analysis is situated within a transformative period, 2020–2025, marked by unprecedented scientific advances in cystic fibrosis treatment, offering renewed hope to the affected community. It is promising that this project will include other languages to broaden its applicability and impact.