Rare diseases 2030: how augmented AI will support diagnosis and treatment of rare diseases in the future

摘要

We picture an 18-year-old young man from a village somewhere in Europe. His name is Omer. Omer has been suffering from disease episodes since his early childhood: bursts of fever, fatigue and abdominal pain. He visited many doctors, but none of them was able to establish a satisfactory treatment. He went through a diagnostic and therapeutic odyssey typical for rare disease patients. Fatigue has led him into social isolation. He is perceived as a malingerer.