In the US, a disease is considered rare when it affects fewer than 200,000 people in the whole country. But, in Europe, a disease is considered rare when it affects less than one of every 2,000 people. However, because there are so many rare diseases, it’s not so rare to have a rare disease. Most rare diseases are caused by simple known mechanisms that have changed medicine. These disease brought insights onto basic human physiology, allowed the discovery of certain proteins, and even better understanding of other common diseases.
Here are 6 known rare diseases that changed medicine: Hypophosphatasia, Gaucher Disease, Niemann-Pick (TYPE 1C), Congenital Leptin Deficiency, Laron Syndrome, PAI-1 Deficiency.