Earlier this year, the Global Medical Excellence Cluster (GMEC) announced a five year collaborative agreement with Pfizer Inc. that provides a framework for the research and development of new and innovative medicines for rare diseases. The agreement provides scientists from the GMEC partners – Cambridge University, Imperial College London, King’s College London, Queen Mary University London, University College London and Oxford University – the opportunity to work with Pfizer scientists on joint drug discovery programmes. Bringing together the scientific and clinical excellence of the Universities and Academic Health Science Centres in the GMEC cluster with the drug discovery and development skills of Pfizer has the potential to accelerate the translation of basic science into a new generation of innovative medicines for the treatment of debilitating and life-threatening conditions.

September 24th saw the official launch in the UK of the “Rare Disease Consortium” with its inaugural scientific meeting opened by Patrick Maxwell, and closed by Sir John Bell, who are the Regius Professors of Medicine in Cambridge and Oxford.

There are over 6,000 recognised rare diseases and, whilst each affects less than 0.1% of the population, collectively they impact more than 3.5 million people in the UK alone and about 60 million across Europe and the USA. Approximately 80% of rare disease are thought to have a genetic origin and so analysis of patients’ genomes is increasingly allowing researchers to identify the biochemical pathways which cause disease, thus enabling the design of new approaches to treatment. The initiative will build on advances in understanding the molecular mechanisms underpinning rare diseases and will benefit from the significant progress made by the UK Government in building support for genomics research, for example the creation of Genomics England.