Rare Diseases and Research
What is a Rare Disease and why do they matter?
The chances of any of us having a particular rare disease are very slight, in some cases miniscule; however, the likelihood of being affected by a rare disease of some sort, whether as a patient or through an afflicted relative or friend, is significantly greater. Although rare diseases (RD) are categorised in Europe as those affecting fewer than 5 in every 10,000 people, the fact that there are between 6,000 and 8,000 separate conditions that fall under that umbrella of ‘rare’ means that RD patients across Europe alone number ca. 30 million. RD pose specific challenges to the stakeholders involved – there may be very few patients living with any single condition, and a corresponding scarcity of experts able to treat them. Even the search for a diagnosis - so important to any patient - can take years if it comes at all.
The Status Quo
There is an increasing recognition, globally, of the need for a specialised focus on RD research, diagnosis, treatment and care. In Europe, a major watershed came in Nov 2008 with the European Commission’s adoption of a Communication entitled ‘Rare Diseases: Europe’s Challenges’. This was followed in June 2009 by a Council Recommendation on an Action in the field of RD. These key legislative activities paved the way for numerous EU projects designed to advance (and facilitate the sharing of) RD knowledge and expertise, in order to improve the provision of healthcare for patients. Such collaboration assumed a truly global dimension with the creation of the IRDiRC (International Rare Diseases Research Consortium) in 2011. With the dual challenges of developing 200 new therapies for RD and building the capacity to diagnose most RD, all by 2020, the IRDiRC is ushering in a new age of research and development for this dynamic area of medical science.
Rare Diseases and IGM
IGM has emerged as a dynamic and key player in this new era of rare disease research, and has helped to place Newcastle firmly on the global RD map. Our Institute mission statement is to ‘treat human disease by developing and implementing new therapies’ and this includes rare disease as well as the more common pathologies. Research is ongoing here into ‘categories’ of RD, such as neuromuscular diseases, rare cancers and rare cardiovascular conditions.
We also have experts specialising in individual conditions, such as Duchenne Muscular Dystrophy and Addison’s Disease. Such work is vital and contributes, through efficient communication and collaboration channels, to a greater UK-wide, EU-wide and increasingly world-wide understanding of particular conditions and areas of disease. The team at IGM place particular emphasis on translational research – helping promising laboratory-based innovations translate into effective treatments for RD patients.
Alongside this cutting-edge disease-specific work, IGM is also a leading player in the wider scheme of things. Many high profile RD projects are coordinated from here, such as the EU-funded Joint Action set up to support the European Union Committee of Experts on Rare Diseases (EUCERD). Also coordinated from IGM is RD-Connect, an overarching project designed to support the new IRDiRC research goals by providing an integrated RD hub to facilitate gene discovery, diagnosis and therapy development. The combined projects of RD-Connect, Neuromics and EURenOmics celebrated their official launch in Barcelona in January, find out more in our news article on Eliminating Rare Diseases.
Several of our individual research themes here at IGM are involved in projects with this kind of overarching approach to RD research, treatment and care generally, through some vital multi-stakeholder collaborations – at the same time, researchers in these various groups are undertaking translational research on specific rare conditions, contributing to the overall knowledge and understanding of these conditions.
