FasSalute. Neuromuscular diseases: from early diagnosis to personalized medicine treatments

An all-Pisan research project is working on a multi-parameter platform for the early and better genetic diagnosis and the personalization of treatment in neuromuscular diseases. PISA. In recent years, next generation sequencing (NGS) techniques have led to a real explosion in the knowledge of many diseases of genetic origin. Among these, there are also neuromuscular diseases (MNM), a group of rare diseases which, if considered as a whole, constitute a large category of progressively disabling pathologies and which require a considerable healthcare burden. Greater knowledge, however, does not automatically correspond to a clear diagnostic picture, a starting point for the formulation of rehabilitation plans and patient care. The discovery of multiple genetic mutations, sometimes even in multiple genes at the same time, has in fact led to an expansion of clinical phenotypes, often underlining the lack of a simple correlation between genotype and phenotype. The role of a multidisciplinary team of professionals specialized in various fields (clinical geneticists, molecular diagnostics experts, computer scientists, statisticians) in interpreting the results therefore becomes increasingly important. It is in this context that the InGene project is being developed, financed by the Fas Salute call for tenders from the Tuscany Region, which aims to simultaneously use different platforms (clinical, bioinformatics, biomechanics) to make the genotype/phenotype correlation more reliable in a large cohort of patients suffering from neuromuscular diseases. To find out more, we interviewed Dr. Raffaele Conte, Head of Information Systems and Telematics Infrastructure at the IFC of the CNR in Pisa.