NIHR BioResource – 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 has been awarded funding for the clinical application of Next Generation Sequencing Techniques (NGST) to study the genomes of affected participants and their relatives. Participants with rare diseases in the following areas are the initial focus of our research: Infection and Immunity, Neuroscience, Rare Diseases (including Rare Cancers) and Cardiovascular Disease.

For more information regarding NIHR BioResource – Rare Diseases, please click on Bridge Study.

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.