Introduction
Rare Genetic Disease
Rare diseases are defined as those that affect one in 2000 people (European Commission); however, as a group, they are relatively common []. The UK Rare Diseases Framework states that 1 in 17 people in the United…
Rare diseases are defined as those that affect one in 2000 people (European Commission); however, as a group, they are relatively common []. The UK Rare Diseases Framework states that 1 in 17 people in the United…