Representation in United Kingdom

UK joins major EU partnership to address rare diseases

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The European Commission and 35 partner countries, including the UK, are establishing a new research partnership on rare diseases – European Joint Programme on Rare Diseases (EJP RD) – to give millions of Europeans suffering from one of the many rare diseases a new hope for improved diagnostics and better treatments and care.

01/01/2019

The partnership comprises more than 130 entities from 35 countries (27 EU member states, including the UK, seven associated countries and Canada) and will be coordinated by the French National Institute of Health and Medical Research INSERM. The total budget of the partnership is over €100 million – half from the EU's research and innovation funding programme Horizon 2020 and half from the partner countries. It starts officially on 1 January 2019 and will run over five years. The partnership brings together the resources at national and European level and involves research funders, universities, research organisations, research infrastructures, hospitals and patient organisations.

The EJP RD will establish a virtual platform to coordinate access to rare disease information, research data and services to optimise exchange of information and knowledge between research and clinical practice.

The programme will involve all European Reference Networks (ERNs) which include 34 UK health care providers, among them Great Ormond Street Hospital, as well as hospitals, university hospitals and healthcare trusts in London, Belfast, Cardiff, Manchester, Derby, Glasgow, Sheffield, Newcastle, Southampton and Bristol. ERNs were launched in March 2017 as unique and innovative cross-border cooperation platforms between healthcare providers focussing on highly specialised healthcare. Through the ERNs, the EJP RD links with expert centres providing highly specialised care in more than 300 hospitals across Europe ensuring that rare diseases patients receive the highly specialised health care they need.

Carlos Moedas, Commissioner for Research, Science and Innovation, said: “Patients with a rare disease often suffer unnecessarily and die prematurely. We need to do much more to develop effective treatments and improve diagnosis. This partnership shows how we can pool Horizon 2020 funding and resources from EU member states and beyond in order to save lives and protect people.”

Rare diseases are those that affect no more than 5 in 10,000 people. Taken together, between 6,000 and 8,000 rare diseases affect the daily lives of around 30 million people in the EU – many of whom are children. Rare and complex diseases can cause chronic health problems and many of them are life-threatening. For example, there are almost 200 different types of rare cancers alone and each year more than half a million people in Europe are diagnosed with one.

Through successive framework programmes, the EU has invested over €1 billion in research into rare diseases, resulting in numerous successful projects, many of which with UK participation or coordination. These include:

- The NEURENOMICS project which successfully applied omics-technologies for studying rare neurodegenerative and neuromuscular diseases, resulting in the identification of over 100 new disease genes and several putative biomarkers for disease onset and progression. These achievements will greatly improve the diagnosis and monitoring of these diseases and will help develop novel therapeutic approaches. UK participants included University of Newcastle Upon Tyne, University College London and University of Cambridge.

- The Alpha-Man project, which contributed to the early phases of the clinical development of an enzyme replacement therapy for a rare disease called alpha-mannosidosis. In spring 2018, an EU-wide marketing authorisation was granted for the medicinal product Lamzede for the treatment of patients with non-neurological manifestations of mild to moderate alpha-mannosidosis. The University of Manchester was involved in this project.

- RD-CONNECT – coordinated by the University of Newcastle Upon Tyne – which supported a platform linking up databases, biobanks, registries and other valuable resources in support of research into rare diseases.

- The EURENOMICS project which has provided new hope for the 2 million people in Europe who suffer from rare kidney diseases thanks to ground-breaking research that has led to diagnostic tests and a new type of treatment. UK participants were the universities of Bristol, Manchester and Newcastle Upon Tyne, University College London and Metabometrix Ltd.

More on Commission activities in the area of rare diseases