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Rare Disease Day 2021

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Rare disease is only rare, until it happens to you or a loved one…

Sunday was International Rare Disease Day. A rare disease is a life-threatening or chronically debilitating disease that affects 5 people or fewer in 10,000 and requires special, combined efforts to enable patients to be treated effectively. There are between 5,000 and 8,000 rare diseases, each one affects less than 0.1% of the UK’s population, but together they affect the lives of 3.5 million people.

The majority of rare diseases currently have no effective treatment. The UK is a recognised leader in research, treatment and care for rare diseases. It is at the forefront of the genomics revolution which could radically transform the way we diagnose and treat patients with rare diseases. Many of the UK population will not have heard of rare disease and until the Covid-19 pandemic would never have heard of “genomics".

8 out of 10 rare diseases have a genetic cause and 99% of genetic conditions are classed as rare. Often rare diseases are chronic and life-threatening and can be single gene, multifactorial, chromosomal or non-genetic. Did you know there is a government initiative to map the whole genome of 100,000 NHS patients. This Strategy illustrates the UK commitment to build on our successes to date.

The diagnosis, treatment and management of rare diseases require the highest level of partnership, working to remove unnecessary barriers. On average, it takes over four years to receive an accurate diagnosis of a rare disease. However, the UK with its world leading science base has built upon advances in diagnostic technologies, mostly in genomics and data analysis, to help patients receive a final diagnosis faster and reduce the ‘diagnostic odyssey’ faced by so many. 

To develop the UK Strategy for Rare Diseases, the Rare Diseases Stakeholder Forum was established. This Forum continues to work with all 4 countries of the UK to monitor the implementation of this Strategy, to ensure work in this vital area is driven forward. Nothing about rare disease, not the diagnosis, not the daily care, not the long term is easy, the work being carried out in the UK has been and continues to be exceptional.

 Find out more about Rare Disease Day here.