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The Rare Diseases Consortium: partnership and progress in rare diseases

By Kevin Lee, Chief Scientific Officer and Head of Rare Diseases Unit, Pfizer

Kevin Lee addresses the launch meeting of the Rare Disease Consortium in London

25 September 2014: Today saw a significant step forward in the fight against rare diseases. The Rare Disease Consortium (RDC), a partnership between Pfizer and the Global Medical Excellence Cluster (GMEC) partners, officially launched in the UK with its inaugural scientific meeting.

Established to bring together academia, physicians, scientists and patient groups to identify and collaboratively develop new medicines for rare diseases, the RDC has the expertise to support early-stage drug discovery for the treatment of rare and devastating conditions.

There are an estimated 7,000 rare diseases in the world today - and counting. Whilst individually “rare” - each affecting less than 0.1 per cent of the population - collectively they are common, impacting more than 3.5 million people in the UK alone.

Across the globe, rare diseases affect over 350 million people – more people than AIDS and cancer combined.

Over 50 per cent of these conditions affect children and 30 per cent of rare disease patients die before their fifth birthday.

Many rare diseases are genetic, passed from parents to children down the generations. In the last decades, we’ve seen great progress in the science and understanding of the human genome. Coupled with advances in technology and new models of collaborations, scientists can follow the clues to unravel a rare disease.

Increasingly, this means we know the cause of many rare diseases – but that doesn’t necessarily mean we also know how to cure them. In fact, less than five per cent of rare diseases have any approved treatments at all.

Developing effective treatments is a significant challenge. Conditions are often misdiagnosed due to fragmented knowledge within the medical community and because diseases are often characterised by a broad spectrum of symptoms that vary from disease to disease and patient to patient.

Research in rare disease is challenging for many reasons; small patient populations, scientific understanding of the root cause, smaller trials and the collaborative need for patient insights. Tackling such a broad range of conditions which affect every single organ, system and cell type is too great for any one pharmaceutical research unit to find a solution by itself.

To maximise our chances of success, we must conduct this research in partnership, focusing our own capabilities in areas where they can deliver the greatest benefit and capitalising on the recent growth in scientific understanding and public awareness of rare diseases to work together.

The GMEC (Global Medical Excellence Cluster) is made up of Cambridge University, Imperial College London, King's College London, Queen Mary University London, Oxford University and University College London, representing the largest life science bio-cluster in the world. As the Rare Diseases Consortium (RDC), Pfizer and GMEC are working together to accelerate drug discovery and take a much needed step forward in this unique area of scientific research.

The RDC will break down barriers to medicine development by creating joint research teams between academia and industry and bringing all parties together far sooner in the process than has often historically been the case.

Academics will share in Pfizer’s expertise as a long-term developer of medicines for rare diseases as well as access to the industrial resources they need to accelerate drug discovery in its early stages. Pfizer will gain access to novel science and academic excellence.

The UK has one of the strongest and most productive life sciences sectors in the world and the government’s strategy for UK life sciences has helped position the UK as a location of choice for pioneering, collaborative research of this nature.

Professor Dame Sally C Davies, Chief Medical Officer & Chief Scientific Adviser, Department of Health said:

"Rare diseases collectively have a significant health impact for the UK, with 1 in 17 people developing one of these debilitating conditions at some point in their lives. Pfizer’s Rare Disease Consortium provides a new model for industry academia collaboration and will allow leading rare disease researchers to work in partnership with Pfizer's expertise and resources to drive forward early drug discovery in this area.

"It will be vital that the outcomes of these innovative research collaborations can be translated rapidly into the clinic. The investment the Government has already made in National Institute for Health Research Biomedical Research Centres, the Rare Diseases Translational Research Collaboration and the NIHR BioResource provides the ideal platform to ensure that these early discoveries can benefit patients with a rare disease as quickly as possible."

Pfizer has a strong legacy working in rare diseases. However, the challenge is too great for any one of us to go it alone. The RDC collaboration is just one of a number of partnerships currently under way, providing a platform for the commitment, collaboration and creativity needed to progress research in this unique area and give patients hope for a better quality of life.