Praed Street, London

Rare Disease Day

Monday 29 February is International Rare Disease Day.

To help raise awareness, there will be a stall at the entrance of the Queen Elizabeth Queen Mother (QEQM) building of St Mary’s Hospital on Monday 29 February.

Please stop by to get further information about rare disease and the Trust's involvement in the 100,000 Genomes Project. 

Come along between 10.00 and 15.00 to ask your questions and find out more.

What is a rare disease?

According to the European Union, a rare disease is one that affects fewer than one in 2,000 people in the general population. There are between 6,000 and 8,000 rare diseases with five new rare diseases being described in medical literature each week.

One in 17 people, or about 3.5 million people in the UK, will be affected by a rare disease at some point in their lives.

In the UK, a single rare disease may affect up to 30,000 people, but the vast majority affect far fewer than this. Some will affect only a handful or even a single person in the whole of the UK!

75 per cent of rare diseases affect children and often rare diseases are chronic and life-threatening.

What are we doing as the West London Genomic Medicine Centre?

The Trust is the lead organisation for West London Genomic Medicine Centre, helping to deliver the 100,000 Genomes Project.

80 per cent of rare diseases are genetic, which is why they’re a focus of the programme, along with cancer. By better understanding changes in the genome, there is potential to provide a diagnosis to patients who haven’t previously had one, and to better understand how the disease develops and which treatments will be most effective going forward.

If you are a patient with a rare disease and would like to know more, you can get more information by following the link or by stopping by the stall on Monday.