Rare Diseases

A rare disease is defined as one with incidence of less than 200,000 in the US (1) because the diseases are so rare and variable, their diagnosis is challenging for doctors even in advanced academic clinical centers. But with ~7000 rare diseases (2), 1 in 10 people suffer from a rare disease. Knowing every, or even the vast majority of rare diseases is impossible. Misdiagnosis is common and multiple physicians and specialist are needed, often increasing time to diagnosis to five or more years.