La formazione nelle malattie rare. A che punto siamo? [Education in rare diseases. Where are we now?]

Rare diseases represent a numerous (more than 30 million patients throughout Europe), diverse (more than 6000 disease ascertained), and complex group of genetic, metabolic, neurologic, congenital and other type of disorders presenting both in pediatric and adult age. Research, education and care are the mainstay of the national rare disease plans of the member states, including Italy. Early diagnosis and multidisciplinary care, particularly in severe or progressive disorder, are mandatory to treat disorders (when a specific treatment is available) and/or avoid life-threatening complications. According to the catchphrase "you can only diagnose what you know", it is intuitive how important is education and the "culture of suspect" in rare disease. In the last decade, a pre- and post-graduate academic planning on rare disease have been set up in Italy, with the aim to be comprehensive and up-to-date with the literature, traversal to both general physicians and all the specialties, longitudinal during all the study courses.