Focus on “Rare and orphan disorders: an emerging challenge?”

Posted On 2018-10-08 16:23:31

Rare (often called “orphan”) diseases are conventionally defined as those affecting a very low number of individuals, but which can be associated with inappropriate management, chronic debilitation and adverse health outcome, up to death. This problematic definition is, quite understandably, a major drawback that many scientists, clinicians and laboratory professionals recognize while facing very uncommon pathologies.

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