Rare Diseases

Focus on rare diseases

Focus on rare diseases

What is a rare disease?

The rare diseases space is unlike any other in medicine. In Europe, a rare disease is defined as one affecting fewer than one person per 2,000. In the US, the Orphan Drug Act of 1983 defines a rare disease as a condition affecting fewer than 200,000 people.

There are thought to be around 6,000 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.

  • 300 million people affected
  • 95 per cent of rare diseases currently have no approved treatment
  • 75 per cent of rare diseases affect children

High unmet medical need

An estimated 75 per cent of identified rare diseases affect children, often having a devastating effect on life expectancy and quality of life. Around 30 per cent of children diagnosed with a rare disease will not live to see their fifth birthday. 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.

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. 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.

Many physicians may never have seen a specific rare condition before; as a result, many cases can go undiagnosed for years.

At Sobi, we are dedicated to rare diseases. We provide access to innovative treatments to improve the lives of people living with rare diseases.

Read more here.


EvaluatePharma® Orphan Drug Report 2019
EURORDIS - The Voice of Rare Disease Patients in Europe