Case study

Linking EHR, Genomic & Claims Data to Find Ultra-Rare Disease Patients

While there is no universal definition of a rare disease, a disease is defined as rare in the United States if it affects less than 200,000 people (620 patients per million).Today, there are nearly 7,000 known rare diseases affecting 30 million people in the U.S.3 While each disease affects a small patient population, as a category, rare diseases have a significant impact on patients, their families, and the healthcare system.

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