Rare Disease Day

Rare diseases day logo


It is estimated that 1 in 17 people will live with a rare disease at some point in their life so building awareness of rare diseases is important. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed.


On 28 February the NIHR is supporting Rare Disease Day.


The main objective of Rare Disease Day is to raise awareness about rare diseases and their impact on patients' lives. This year the theme of Rare Disease Day is research and we’ll be taking the opportunity to highlight some groundbreaking research going on across the NIHR in the rare diseases across the range of specialties


What is a rare disease?

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000 people. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.


Rare diseases in numbers infographic
Professor John Burn

Professor Sir John Burn, is a geneticist and rare disease research expert. 


Professor Sir John Burn has been Professor of Clinical Genetics since 1991 and a consultant specialist since 1984. He is a recognised authority on the genetics of cancer and he led the regional NHS Genetics Service for 20 years. Professor Burn led the NIHR Clinical Research Network (CRN) Genetics specialty from 2009 to 2014 and was responsible for setting up the NIHR UK Rare Genetic Disease Research Consortium Agreement, known as the Musketeers Memorandum in 2013.


In a series of short videos, Professor Burn describes the journey for research in rare diseases in the UK and some its achievements, how important it is for patients to have access to research in this area and what the future hope is for rare diseases. 


Find out about the work of the NIHR BioResource for Translational Research from Professor Willem Ouwehand and Dr Ernest Turro, NIHR BioResource researchers based at the University of Cambridge.

Michael talks about his experience to date as a healthy volunteer signing up to the NIHR BioResource - a resource supporting studies looking at how genes and other factors influence disease.

Shin bone fracture

Fracture repair to lower shinbone

Researcher in lab conducting tests

CYLD cutaneous syndrome

DNA helix

22q11.2 syndrome

Graphical representation of a human liver

Rare liver disease

Use of Asprin for cancer prevention in Lynch Syndrome

Lynch syndrome

Get involved

Pledge your support for rare disease research and our support campaign on social media using the hashtags:

#IamResearch  #ShowYourRare  #rarediseaseday


NIHR BioResource

The BioResource supports studies looking at how genes and other factors influence disease. By gaining more information on the genes involved in disease, we can begin to better diagnose rare diseases and potentially find effective treatments. Find out more. 




Useful links



Sign up to the 100,000 Genomes Project

The 100,000 Genomes Project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.