Discover the role of the BioResource in using genetics to tackle rare diseases!
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.
The scale of the challenge of rare diseases
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.
Cookie | Duration | Description |
---|---|---|
cookielawinfo-checbox-analytics | 11 months | This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Analytics". |
cookielawinfo-checbox-functional | 11 months | The cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional". |
cookielawinfo-checbox-others | 11 months | This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Other. |
cookielawinfo-checkbox-necessary | 11 months | This cookie is set by GDPR Cookie Consent plugin. The cookies is used to store the user consent for the cookies in the category "Necessary". |
cookielawinfo-checkbox-performance | 11 months | This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Performance". |
viewed_cookie_policy | 11 months | The cookie is set by the GDPR Cookie Consent plugin and is used to store whether or not user has consented to the use of cookies. It does not store any personal data. |