Rare disease and recent advances in medicine: an ethical and scientific challenge

Key words: Rare diseases, Innovative therapies, Genetic screening, Bioethics

Recent advances in medicine are providing new opportunities to treat rare and complex disorders. Precision therapies are being developed to target molecular processes crucial to the disease pathogenesis. Media often present technological advances raising great hopes. However, the journey on the road of medical innovation can be extremely bumpy for some patients. Indeed, subjects living during a period of innovation and medical changes may just face failures, both in terms of frustrated hopes as well as suffering. Indeed, novel treatments do not always lead to a cure for the disease and the choice to join a clinical trial with innovative medications can be hardly challenging, both as concerns science and humanism. The paper describes four stories of children with rare disorders who had different outcomes and discusses how difficult the best scientific and ethical choices can be when novel treatments are proposed