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 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 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.
Rare Disease RNA Phenotyping Project
We are currently running a rare diseases project where we sequence the RNA of blood cell types of ~1000 patients with a rare disease. This allows us to look further at the relationship between the genetic make-up of individual cells and their behaviour.
We hope that this research will help with rare disease diagnosis, development of new treatments and open up new avenues for research. Discover more about our RNA Phenotyping Project.
How can you join the BioResource?
We are able to recruit participants to our rare disease studies only through a referral by a clinician. However, should you need to contact the Rare Diseases BioResource, we can be reached via email@example.com
If you are a member of the BioResource, you can help shape our future and your experience with the BioResource by joining our National Participant Advisory Group.
Rare disease projects
We recruit patients across the country via their clinician into one of our rare disease projects. Find out which projects are actively recruiting patients.