7 March 2017
On Tuesday 28 February, researchers at Royal Brompton Hospital marked international rare disease day with interactive stands and workshops to help increase awareness of rare diseases. The day was supported by the NIHR Rare Diseases Translational Research Collaboration, with information available on the rare disease projects that the Trust leads on.
Visitors were also 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 50 people attended the event and enjoyed speaking with researchers about their work in rare disease research at the hospital and taking part in fun and informative activities available on the stands. These included:
- learning how genes play an important role in many rare diseases with the pancake recipe challenge
- making DNA bracelets
- extracting DNA from strawberries.
Visitors included children from Oratory Roman Catholic Primary School in Chelsea who, along with visiting the stands, were invited to take part an educational workshop on how the heart works. They had the opportunity to learn from real animal hearts and find out about the work the hospital does in caring for patients with rare congenital heart conditions.
Dr Sonya Babu-Narayan, a consultant in adult congenital heart disease whose work involves both patient care and research into future treatments, said: “Today was a real chance to highlight the importance of our research work to help find cures for rare cardiac diseases. It was also a great opportunity to tell local children about what it’s like working in medicine and science.
"I remember how inspiring it was to me to have these kinds of visits when I was at school, and now it’s fantastic to be able to speak to the next generation of doctors and scientists."
Rare disease day aims to raise awareness among the general public and decision-makers about rare diseases and their impact on patients' lives. 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.
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