Common lysosomal disease

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.

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