NIHR Rare Disease BioResource

NIHR Rare Diseases BioResource

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.  We established the Rare Diseases component of the NIHR BioResource to help tackle rare diseases. We want to identify genetic causes of rare diseases, improve diagnosis and support work to develop and validate treatments. Our work will improve care for those with rare diseases and support their families.

NIHR Rare Diseases BioResource - how do our genes influence health and disease?

At RAREfest22 the NIHR Rare Diseases BioResource will be helping you understand how do our genes interact with the environment to influence our health. We’ll have games and activities to help explain the role of genetics and DNA and how the Rare Diseases BioResource is working to improve patient outcomes.
Come and visit us to cast your vote in the Biologist Ballot (vote for the biologist you think is most important after taking a look at our biologists in the showcase), have a go at ‘genetics chatterbox’ and try your hand at our DNA double helix building activity and more!  You can also chat with some of their Young People’s Bioresource team about their plans for getting more YP interested and involved in research. Ask them about their recent trip to Birmingham to meet sixth-formers there.

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

We work in more than 60 disease areas, including immunology, 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 the clinical characteristics of the participants, which researchers call the ‘phenotype’.

Our participants are essential to our research. Their contribution helps researchers understand more about rare diseases’ genetic causes.  Learn more about what we do.

Discover the role of the BioResource in using genetics to tackle rare diseases!