Rare Disease Solutions

The World Health Organization defines a ‘rare disease’ as any medical condition, with a specific pattern of clinical signs, symptoms, and findings that affects fewer than or equal to 1 in 2,000 persons living in any WHO-defined world region.  Although instances of these ‘rare diseases’, particularly genetic disorders, are – by their very nature – ‘rare’ when considered on an individual basis, there are numerous and diverse conditions. 

Rare diseases include, but are not limited to, rare genetic diseases, rare cancers, rare infectious diseases, rare poisonings, rare immune-related diseases, rare idiopathic diseases, and rare undetermined conditions. 

The International Statistical Classification of Diseases and Related Health Problems (ICD) ICD-11 classification includes some 5,500 rare diseases and their synonyms.  Rare diseases affect approximately 6% of people worldwide, which, when extrapolated to the 2022 global population is equivalent to more than 470 million people.