The case for a global rare-diseases registry : The Lancet

The case for a global rare-diseases registry

Rare diseases are a clinically heterogeneous group of about 6500 disorders,1 and in fewer than 200 000 individuals in the USA.2 They are commonly diagnosed during childhood, often inherited, and can have deleterious long-term effects. Although any one condition is rare, their cumulative public health burden is substantial, with 6—8% of people having a rare disease at some point during life.3

Because of the rarity, no single institution, and in many cases no single country, has sufficient numbers of patients to do generalisable clinical and translational research. Geographic spread of patients has been a major impediment to recruitment into clinical trials....cont'd