Industry Facts

Five facts about rare diseases

  1. In most countries, rare diseases typically affect fewer than one in 2,000 people, however they are significantly more common in Canada, affecting one in 12 people.1This means there are approximately three million Canadians and their families currently living with a rare disease. 1
  2. There are over 6,000 unique rare diseases across the world, with almost 70% exclusively occurring in children and over 10% exclusively occurring in adults.1
  3. Approximately 95% of the known rare diseases in the world currently have no treatment and many have not yet been studied by medical researchers.2Patients are typically treated off-label, meaning the treatment is not approved by the US Food and Drug Administration (FDA). 2
  4. Around two-thirds of patients with rare diseases are children.3These children often develop these rare diseases due to genetics, but other causes can be from infections, exposure to toxic substances, nutritional deficiencies, injuries or adverse effects of treatment from other illnesses. 3
  5. With prenatal testing becoming more advanced, it is now possible to test for rare diseases as early as the tenth week of pregnancy – the procedure consists of a simple blood test that screens for multiple diseases, such as Edwards’s syndrome and Patau syndrome.4