Set-up of a Platform for Personalized Diagnosis of Rare Kidney Diseases (NIKE)

Validation of genetic diagnosis

Chronic kidney disease (CKD) is a major health problem, with steadily increasing incidence
 and prevalence and the threat of a true epidemic. Converging evidence suggests a high
 prevalence of genetic etiology in rare kidney diseases and the list of new disease-causing
 genes is constantly updated. Recent advances in next-generation sequencing (NGS) technologies
 have prompted a significant improvement in the diagnosis of rare kidney diseases.
 Notwithstanding this, NGS generates high numbers of information that need to be properly
 analysed by the joint efforts of geneticists, nephrologists and bioinformatics in order to
 integrate clinical and genetic information in a personalized manner. In addition, in selected
 cases, the contribution of researchers proves essential for the development of experimental
 models of the disease to study and understand the pathogenic features and propose a
 personalized therapeutic approach. Such an innovative, integrated diagnostic paradigm is
 currently available in few centers all over the world and cannot be easily translated in
 daily clinical practice.
 
 The aim of the study is to set-up an integrated diagnostic algorithm to extend the newest
 personalized diagnostic and treatment strategies for rare kidney diseases to all patients in
 the Tuscany region, under 40 years of age with kidney disease. This algorithm will be based
 on a constant cross-talk between participating centers and a dedicated multidisciplinary
 team. Diagnostic and therapeutic performances will be validated at European level.