In the United States, more than 7,000 rare diseases collectively affect more than 25 million Americans. Rare diseases, are classified as any disease that affects less than 200,000 Americans. Orphan diseases, including rare diseases, are neglected conditions whose treatments are often not considered profitable due to their cost to develop and limited patient population.
Orphan and rare diseases include more familiar conditions such as cystic fibrosis, Lou Gehrig’s disease and Tourette’s syndrome, as well as less familiar conditions such as Duncan’s Syndrome, Madelung’s disease and acromegaly/gigantism. The prevalence of rare diseases is often an estimate and may change over time. These conditions are complex and often not well understood, causing many patients to encounter greater challenges in being properly diagnosed or having access to effective treatments.