Advancing the potential of AI in rare disease

In recent years, the field of artificial intelligence (AI) has surged forward, catalysing transformative changes across various sectors, with healthcare being a focal point of innovation. Among the myriad areas where AI demonstrates promise, its potential in revolutionizing the diagnosis and treatment of rare diseases stands out prominently. Rare diseases, often referred to as orphan diseases, affect a small fraction of the population, yet collectively, they impact a significant number of individuals worldwide. Despite their low prevalence, these conditions present unique challenges in diagnosis and treatment due to limited awareness, scarce research, and diverse clinical presentations.