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 continue to innovate to bring new treatments and diagnostic tests for rare diseases to the people who need them most. We are bringing to bear the full capabilities and know-how of Roche scientists and clinicians with the purpose of creating transformational therapies that enable people living with fatal or life-limiting rare diseases to lead the most fulfilling lives possible.
Mathew Pletcher
ad interim, Head of Rare Diseases in pRED
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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