Over 7% of the UK population are affected by one of over 5000 different rare diseases, with approximately 80% being single gene disorders. However, each specific disease is rare, and affects less than 5 in 10,000 of the population1. The NIHR Rare Diseases Translational Research Collaboration (RD-TRC) has been developed to catalyse in-depth phenotyping of patients with rare diseases, linking this to genotyping where appropriate, and leading to national databases accessible both to academia and industry. With investment the aim is to increase research collaborations that will lead to improved diagnosis, treatment and care for people with rare diseases.
The NIHR Royal Brompton Respiratory Biomedical Research Unit (lead Professor Eric Alton) co-ordinates the Respiratory RD-TRC. Initially, two diseases have been selected for funding, Cystic Fibrosis and Alpha-1 Antitrypsin Deficiency.
To find out more about the rare disease collaborations please click on the links below:
1 The EU definition of a rare disease is one that affects fewer than 5 in 10,000 of the general population. Rare diseases can affect physical or mental health or both. They can range from debilitating, life-limiting conditions to manageable conditions that do not affect daily living. Around 80% of rare diseases are genetic. Consultation on the United Kingdom Plan for Rare Diseases. UK Health Departments. February 2012. Gateway reference 16959