1 in 17 people will be affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK and 30 million people across Europe .

Most rare diseases currently have no effective treatment.

8 out of 10 rare diseases have a genetic cause and 99% of genetic conditions are classed as rare . Often rare diseases are chronic and life-threatening. Rare diseases can be single gene, multifactorial, chromosomal, or non-genetic.

On average, it takes over four years  to receive an accurate diagnosis of a rare disease.

Rare diseases include rare cancers such as childhood cancers and some other well-known conditions, such as cystic fibrosis and Huntington’s disease.