Institute of Genetic Medicine

Rare Diseases

Rare Diseases

The chances of any of us having a particular rare disease are very slight, in some cases miniscule. Likelihood of a rare disease affecting us through an afflicted relative or friend is greater.


Rare diseases (RD) in Europe affect fewer than five in every 10,000 people. But there are between 6,000 and 8,000 separate conditions that fall under that umbrella of ‘rare’.

This means that RD patients across Europe alone number about 30 million.

RD pose specific challenges to the stakeholders involved. There may be very few patients living with any single condition.

There may also be 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.

We look at the genetics behind conditions like Addison's disease.

The status quo

There is an increasing worldwide recognition of the need for a specialised focus on RD:

  • research
  • diagnosis
  • treatment
  • care

In Europe, a major watershed came in 2008. The European Commission adopted a communication entitled ‘Rare Diseases: Europe’s Challenges’.

In June 2009 a Council Recommendation on an Action in the field of RD followed. These activities kicked off many EU projects to advance RD knowledge and expertise.

The aim was to improve the provision of healthcare for patients.

The International Rare Diseases Research Consortium (IRDiRC) started in 2011.

It has the challenge of developing 200 new RD therapies and building capacity to diagnose most RD by 2020. The IRDiRC is ushering in a new age of research and development for this dynamic area of medical science.

Our work

We have emerged as a dynamic and key player in this era of rare disease research. It has helped to place Newcastle firmly on the global RD map.

Our mission statement is ‘treat human disease by developing and implementing new therapies’. 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
  • rare cardiovascular conditions

We also have experts specialising in individual conditions. These include Duchenne Muscular Dystrophy and Addison’s Disease.

Such work is vital. It contributes to a greater worldwide understanding of particular conditions and diseases.

The team at IGM place particular emphasis on translational research. We help promising laboratory-based innovations translate into effective treatments for RD patients.

Leading projects

Alongside cutting-edge disease-specific work, IGM is a leading player in the wider sense. We co-ordinate many high-profile RD projects from here.

These include 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. This overarching project supports the new IRDiRC research goals.

It provides an integrated RD hub for gene discovery, diagnosis and therapy development.

Several of our research themes involve projects of RD research, treatment and care. This is through some vital multi-stakeholder collaborations.

Researchers in these various groups are undertaking translational research on specific rare conditions. They're contributing to the knowledge and understanding of these conditions.