Orphan diseases UK
A rare disease is defined by the European Union as one that affects less than 5 in 10, 000 of the general population.
There are between 6, 000 and 8, 000 known rare diseases.
Around five new rare diseases are described in medical literature each week.
1 in 17 people, or 7% of the population, will be affected by a rare disease at some point in their lives
This equates to approximately 3.5 million people in the UK and 30 million people across Europe.
In the UK, a single rare disease may affect up to about 30, 000 people. The vast majority of rare diseases will affect far fewer than this – some will affect only a handful, or even a single person in the whole of the UK.
80% of rare diseases have a genetic component.
Often rare diseases are chronic and life-threatening.
Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.
75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday.
Rare diseases include rare cancers such as childhood cancers, and some other well known conditions such as cystic fibrosis and Huntington’s disease.