Rare diseases is an academic concept and research field focused on the study of medical conditions that affect a very small proportion of the population. This field investigates the diverse etiologies, complex pathophysiologies, and varied clinical presentations of these conditions, which are characterized by low prevalence, leading to significant diagnostic and therapeutic challenges. Its significance lies in advancing the understanding of human biology and disease mechanisms, developing specialized research methodologies, and addressing the substantial unmet medical needs of affected individuals globally.