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Only a quarter of more than 6,000 identified rare diseases have had their molecular basis defined. This means patient diagnosis and treatment is difficult. The centre will focus its research in this area to improve diagnosis and develop new treatments.   

The centre will also give research specialists the support and facilities they need to produce results. By investing in the infrastructure that supports the research, the centre aims to consolidate its role as one of the world’s leading centres for the treatment of children with rare diseases. 

The work to define the molecular basis of these rare diseases will also have wider benefits. Many of the genes that the centre will identify will be integral to the biological mechanisms for more common and recognised diseases. This could lead to use in general therapies. 

The centre is due to open in 2017, and will provide space for 20-25 research groups, each with 10-12 researchers. The leaders of the research will be well-respected in their field. Among their responsibilities, they will prioritise education and training to nurture future clinical and scientific academic leaders.

Main contact

Name Professor Rosalind Smyth FMedSci
Title Director of the UCL Institute of Child Health
Tel 0207 905 2189
Email ich.director@ucl.ac.uk
Website  www.ucl.ac.uk/ich/homepage

Page last updated 26 February 2015