Published 4 September 2019

This spotlight report highlights the vital role medical research charities play in making a difference for rare diseases

Currently, there are between 6,000 and 8,000 rare diseases and it is estimated that 3.5 million people in the UK will be affected by a rare disease during their lives. Despite the scale of the issue, over 90% of know rare diseases still lack an effective treatment. This spotlight report sets out how AMRC charities are making a difference to the rare disease landscape and provides examples of innovative projects and collaborations that are currently underway or have already made an impact on those affected by a rare disease.

Data sources:


  1. Rare disease definition, 80%, 3.5 million:
  2. >90%: Pugath Consilium Benchmarking Success report (p.37)

How do medical research charities make a difference for rare diseases?

  1. AMRC charities are involved in different activities to make a difference for rare diseases. These key activities were extracted from AMRC's grants database.
  2. £142 million, 640 projects, 67 (27) charities, 29%: Awards from current AMRC members active in 2018. Inclusion criteria: award was either funded by a rare disease-focused charity or contained the keyword 'rare' in the title, abstract and/or lay summary. Irrelevant grants (not concerning rare diseases) were excluded.

To learn more about the projects featured in this report, follow these links:

  1. Ensuring early diagnosis
  2. Establishing a patient registry
  3. Building knowledge with innovative tools
  4. Engaging at all drug development stages
  5. Improving care in the NHS
  6. Attracting and supporting leaders
  7. Joining forces to drive research forward and
  8. Creating a rare disease centre