Rare Disease BioResource

Around 1 in 17 people will develop a rare disease during their lifetime. Globally, an estimated 400 million people are affected, including around 3.5 million in the UK.

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Rare disease aims

The Rare Diseases BioResource supports research into more than 60 disease areas, including immunology, neuroscience, haematology, rheumatology, cardiovascular disease, and many more.

We aim to identify genetic causes of rare diseases, improve diagnosis and support the development of new treatments, to improve care for people living with rare diseases and supports 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 Rare Diseases BioResource has recruited over 22,000 people affected by rare conditions, and in some cases, their relatives.

The majority of these people have provided us with a biological sample of either Blood or Saliva. With this sample we have been able to generate genetic information and data.

We link this genetic information to clinical characteristics, known as phenotype, to help researchers understand the genetic basis of rare diseases.

Our participants are central to this work. Their involvement has and will enable researchers to uncover new insights into the causes of rare conditions.

Silhouette group of people, some orange, some different colours on white background

Rare Disease RNA Phenotyping Project

Within our Rare Diseases BioResource we launched the RNA Phenotyping Project to support earlier diagnosis, the development of new treatments and open up new avenues for research.

RNA Phenotyping project

Conducting rare disease research?

Find out more about available support for your research and how to make an application, or get in touch with our team to discuss your project.

Using our BioResource Email us

How can you join the BioResource?

The scope of recruitment for Rare Diseases was scaled back in 2024 so we are only inviting people to join in a small selection of health areas. You can only join our rare disease studies through a referral by a clinician.

If you want to contact the Rare Diseases BioResource, or have questions about the above you can reach us at: rarediseases@bioresource.nihr.ac.uk or 0800 090 22 33

If you are already a member of the BioResource, you can help shape our future by joining our National Participant Advisory Group (NPAG).

You can also come join us on X and LinkedIn to see updates and announcements.