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Rare Disease Diagnosis

Today, in the age genomics, the prevalence of rare diseases is becoming apparent. Defined in the U.S. as a disease affecting fewer than 200,000 people, in the EU, the definition is bit different—a disease that affects fewer than 1 in 2,000 people. With the vast majority of rare diseases of genetic origin, it is little wonder that the maturation of genomics in healthcare is having a significant impact in both discovering new rare diseases, and—due to understanding a particular rare disease’s genetic underpinning—suggesting new options for treating them.

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