Centre for Rare Diseases and Personalised Medicine

Lead: Professor Eamonn Maher

Email: e.r.maher@bham.ac.uk

Established in 2010 the principal aims of the Centre for Rare Diseases and Personalised Medicine are to undertake groundbreaking research in order to understand the molecular causes of rare diseases and so provide a basis for improving the diagnosis, clinical management and treatment of these disorders.

The University of Birmingham has international expertise in rare diseases but because of the diverse nature of these disorders expertise is distributed across many Schools and Colleges. The Centre provides a focus for rare disease research enabling better use of resources and a more coordinated approach. There are more than 6,000 rare diseases and although individually infrequent, collectively they are common and affect >5% of the population. Poor understanding of the rare diseases leads to delayed diagnosis and in many cases effective treatment is not available.

Most rare diseases are inherited and advances in genetic technologies have enabled us to identify rare disease genes that allow early accurate diagnosis and can provide a basis for understanding gene function and developing novel approaches to therapy. We aim to continue to expand our knowledge and translate this into a better outlook for families with rare diseases. In addition we wish to give the next generation of scientists and clinicians the opportunity to pursue a career in rare disease research (as research into rare diseases often provides insights into more common disorders this will benefit many). We have established a MRes/PhD training programme in Genomics and Rare Diseases and are providing opportunities for Research Training Fellowships.

In addition to representing an important cause of ill health, rare diseases also provide many examples of how understanding the causes of rare diseases has provided fundamental insights into basic biological processes and the causes of common diseases. The new Centre aims to provide leadership in both the sciencific and clinical research into rare diseases.