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A disease that affects less than 1 in 2,000 of the general population (EU definition). In the UK, approximately 3.5 million people will be affected by a rare disease at some point in their life (Rare Disease UK).

Use in clinical context

Individually a rare disease is rare, but collectively they are common. Many people with rare diseases often go through a diagnostic odyssey with many tests that do not necessarily lead to an explanation or treatment for their disease. It is thought that the majority of rare diseases have a genetic cause. Finding this cause can lead to a diagnosis and possibly treatment options. Increasingly, more people with undiagnosed rare diseases are undergoing genomic testing which is providing a diagnosis for some. Not everyone who has a genomic test will receive a diagnosis initially, but those without a diagnosis may receive one as more is discovered about the function of the genome.

Related terms

Genetics | Genomics

Last updated on 23rd February, 2022