Understanding and teaching rare diseases: from historical origins to modern classification

The concept of rare disease, formalized in the United States in the 1980s with the Orphan Drug Act, has historical and cultural roots dating back to the Renaissance. The definition of "rarity" has changed over time according to diagnostic tools, social contexts, and economic factors. With the advent of genetics, many new low-prevalence diseases have emerged, raising clinical and ethical challenges. Today, rare diseases require a multidisciplinary approach that also includes narrative medicine, in order to value the patient's experience and better understand the relationship between disease, illness, and society.