Rare diseases

Around 1 in 17 people will develop a rare disease at some point in their lives. Today 400 million people in the world – and 3 million in the UK – have a rare disease.

Graphic of people outlines coloured differently to indicate rare diseases

 

We established the Rare Diseases component of the BioResource to help to tackle rare diseases.

We want to identify genetic causes of rare diseases, to improve diagnosis and to support work to develop and validate treatments. Our work will improve care for those with rare diseases and support their families.

The scale of the challenge of rare diseases

  • There are about 7,000 inherited rare diseases
  • The genetic basis of about half of these have been discovered; a major challenge now is to identify the remaining causes of rare diseases
  • 30 million people across Europe have a rare disease
  • 75% of rare diseases affect children
  • 30% of rare disease patients die before their fifth birthday
  • A rare disease affects the individual, the parents, siblings and friends; many people’s lives are affected by rare disease

What we do

The NIHR BioResource – Rare Diseases recruits affected participants and in some cases, their relatives.

We work in more than 50 disease areas, including immunity, neuroscience, haematology, rheumatology, cardiovascular disease, and many more.

We have used modern technologies to study part, or the entire DNA of many participants (whole-genome sequencing). To aid our work, we have tied that genetic information to clinical characteristics of the participants, which researchers call the 'phenotype'.

Our participants are essential to our research. Their contribution helps researchers to understand more about the genetic causes of rare disease.

Learn more about what we do.

How can you join the BioResource?

We are able to recruit participants to our rare disease studies only through a referral by a clinician.

If you do not have a rare disease, you can still contribute to the BioResource: there is more information in our sections on our Healthy populations and how to join the BioResource.

If you are a member of the BioResource you can also help us by joining our Participant Panel.