Center of reference for molecular and genetic diagnosis of rare liver and metabolic disorders, supported by advanced platforms for next-generation sequencing and other state-of-the-art laboratory techniques. The laboratory integrates basic molecular research with clinical practice, contributing to an improved understanding of the genetic and molecular bases and pathobiological mechanisms of conditions such as hereditary hemochromatosis, genetic and acquired disorders of iron metabolism, porphyrias, and other metabolic diseases. The Lab also participates in national and European initiatives focused on novel gene- and RNA-based therapies, with ongoing projects aimed at translating genomic insights into innovative treatments for patients with rare disorders or chronic liver diseases. This translational research environment fosters collaborations, supports the training of young scientists, and bridges laboratory discoveries with patient care and precision medicine. The laboratory hosts the Spoke 1 Flagship of the National Center for Gene Therapy and Drugs Based on RNA Technology (EU).