On Wednesday 28 February researchers at Royal Brompton Hospital marked international rare disease day with an information stand to help increase awareness of rare diseases.
Visitors to the stand were able to find out about the Trust’s role in the 100,000 Genomes Project as part of the West London Genomic Medicine Centre. The 100,000 Genome Project is a national initiative which aims to sequence the genomes of individuals with rare diseases and cancer, to enable new scientific discovery and medical insights for the benefit of patients.
Over seven per cent of the UK population are affected by one of over 5,000 different rare diseases, with approximately 80 per cent being single gene disorders. However, each specific disease is rare, and affects less than five in 10,000 people.