NIHR BioResource – Rare Diseases

Welcome to Rare Diseases

The NIHR BioResource – Rare Diseases has been established to identify genetic causes of rare diseases, improve rates of diagnosis and to enable studies to develop and validate treatments; thus improving care for those with rare diseases and their families.

The information in the following pages are primarily for participants or their relatives who have been invited to take part in the NIHR BioResource – Rare Diseases by their NHS clinical care team.

There are approximately 7,000 inherited rare diseases and the genetic basis of about half of these have been discovered, the challenge now is to identify the remaining causes of rare diseases.

  • 1 in 17 people will develop a rare disease at some point in their lives
  • 30 million people across Europe
  • 75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday
  • A rare disease affects the individual, parents, siblings and friends; many people’s lives are affected by rare disease

The NIHR BioResource – Rare Diseases recruits affected participants and their relatives across several different disease areas including Infection and Immunity, Neuroscience, Rare Diseases (including Rare Cancers) and Cardiovascular Disease.

The whole genomes of a large number of participants have been studied and an extensive range of phenotype information has been captured.

If you are reading these pages, and you do not have a rare disease, but would like to join BioResource please visit the how to join page.

 

 

 

Find out more

If you would like to find out further information about the NIHR BioResource, please click the link below, to find the person to direct your enquiries to.