Mitochondrial Diseases

Over the past century, the progress in biomedical sciences gave outstanding contributions to the understanding of human conditions, and even curing some of them. Recent advances in high-throughput technologies have enabled the profiling of Rare Diseases (RDs) trough genomics, transcriptomics, proteomics, and metabolomics. Regardless of the improvements in the efficiency of data generation, the research community struggles when stepping into bedside and translational processes. The lack of integrated networks between specialists of referral hospitals, local healthcare services and researchers represents a major challenge impacting outcomes of patients with RDs and overall family well-being. The "Agostino Gemelli" University Hospital (GUH) is a leader in the national and international scenario on the clinical management of individuals affected by RDs with more than10.000 patients followed per year, 19 Units certifying different RDs and 16 of them belonging to the European reference Network. Nevertheless, even though the Units by themselves have a well-organized level of competencies, the network of specialists inside and outside hospital, the transition models from pediatric to adul