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Rare Disease Day, the importance of newborn screening

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Rare Disease Day, the importance of newborn screening

In all, there are 7-8 thousand, but according to more recent studies at least 10 thousand. They are generally severe, chronic, sometimes progressive, not always easy to diagnose and only 6% are available for a solution therapy. They are rare diseases, those whose prevalence does not exceed the threshold of 0.05%, or 5 cases out of 10 thousand, but which overall rare they are not that much, given that there are 300 million sick people in the world rare and 30 million in Europe.

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