부산대학교 도서관

In the universe of neuromuscular disorders (NMD), a peculiar feature is represented by the amount of rare NMDs, singularly accounting for a relatively scarce number of individuals, but representing huge records when taken together. The main clinical problem with rare NMDs deals with their correct diagnosis, which is difficult due to their similar phenotypes, and with the correct choice towards their treatment, which is key to successfully improve the patients’ health status. In this regard, it is essential to promote the collection of data in a structured, user-friendly manner for clinicians, at the same time keeping it usable for data scientists and researchers in the field. Information and Communication Technologies (ICT) are fundamental in this regard, making it possible to achieve this ambitious goal. The InGene 2.0 project is therefore aimed at setting up a safe, secure, GDPR-compliant, ICT-based software platform to collect multimodal, multiparametric data in this regard, entering the market of NMDs with useful tools for both the clinicians and data scientists.