What is a rare disease?

The UK Rare Diseases Framework defines a rare disease as one affecting fewer than one person per 2,000.¹ However 1 in 17 people will be affected by a rare disease at some point in their life¹, meaning an estimated 3.5 million people in the UK¹, and 300,000 people Ireland², live with a rare disease. 

There are thought to be around 7,000 identified distinct rare diseases, affecting more than 300 million people around the world. Yet around 95 per cent of rare diseases currently have no approved treatment.³

Around 80 per cent of rare diseases are inherited rather than acquired: they involve a defect in the genes that tell our bodies how to work.³ As a result, the body may fail to produce an essential enzyme or protein, for example, or its own immune defences may attack its own systems.

High unmet medical need

An estimated 70 per cent of identified rare diseases affect children, often having a devastating effect on life expectancy and quality of life.³ Around 30 per cent of children diagnosed with a rare disease will not live to see their fifth birthday^.1 

The severe nature of many rare diseases often leads to high levels of distress for patients and their families, with an accompanying high treatment burden. It can also have a negative impact on school and work for those directly affected by a rare condition as well as their loved ones and carers.

Many healthcare professionals may never have seen a specific rare condition before; as a result, many cases can go undiagnosed for years. In fact, it is estimated that it takes, on average, 5.6 years for patients and their families to receive an accurate diagnosis of a rare disease.⁴ This is known as the ‘diagnostic odyssey’.

At Sobi, we are dedicated to rare diseases. We provide access to innovative treatments to improve the lives of people living with rare diseases and hope to support those people to live the lives they want, and deserve, to live. 

Read more here.