What makes a rare disease rare?

In the European Union a disease is considered rare when it affects fewer than one in 2,000 people. In the US, the figure is fewer than 200,000 people affected by a disease at any given time.

Overall, there are around 7,000 rare diseases, which, collectively, affect more people than cancer.

Worldwide over 350 million people live with a rare disease and the vast majority are children.

are children

Rare diseases have a huge impact on individuals, their families and society as a whole, yet treatments are available for only around 200 rare diseases.

rare diseases

Roche has a proud history of transforming the lives of those with rare diseases for example, treatments for people with microscopic polyangiitis (MPA), non-Hodgkin’s lymphoma, idiopathic pulmonary fibrosis, haemophilia A or growth hormone deficiency.

We are currently focusing on research into four rare disease areas:
  • Neuro-muscular diseases.

  • Genetic neurodevelopmental diseases.

  • Severe neurogenetic diseases that are degenerative.

  • Rare genetic forms of blindness.

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