Rare Diseases

Site map
Skip to Navigation

Contrast:

Rare Diseases

doctor character We welcome referrals from GPs and other hospitals, please refer to individual specialist teams. If you are unsure who to refer to, please contact the on-call consultant available 24/7 through our switchboard (0121 333 9999) who will be able to discuss the case. For SWAN clinic referrals, please refer to Dr Swati Naik - swati.naik@nhs.net.

For Roald Dahl Rare Disease Nurses, please email bwc.raretogether@nhs.net or call 0121 333 9999 and dial the extension 6324.

Useful websites

European

North American

Rare Diseases - Did you know?

The definition of a rare disease is a condition that affects less than five in 10,000 of the general population (or less than one person in 2,000 in the population or 0.05%)
One in 17 people will be affected by a rare disease at some point in their life (European Council)
This amounts to approximately 3.5 million people in the UK
Collectively rare diseases are not rare
75% of rare diseases affect children
There are 6,000 to 8,000 recognised rare diseases
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.