The European Union defines a disease as rare when it is life threatening or chronically debilitating and affects less than one person in 2,000. It is estimated that some 30 million people are living with a rare disease in the EU.
Although each rare disease affects a small number of people, we are dealing with a staggering number of 6,000 to 8,000 diseases, each with its own specificities, leading to scarcity and fragmentation of knowledge and expertise. This is why European and international collaboration is indispensable for improving diagnoses and finding treatments for rare diseases.
Over the past 14 years, the EU has supported this field extensively through its Framework Programmes for Research and Innovation, with more than €1.4bn in grants given to over 250 transnational research consortia. These span all areas, including neurology, immunology, metabolic diseases or rare cancers, while many projects are delivering new concepts for therapies and optimised diagnosis.
For example, DevelopAKUre has demonstrated the efficacy of the orphan drug nitisinone, resulting in authorisation by the European Commission in October 2020 of the first treatment for the ultra-rare metabolic disorder alkaptonuria. Furthermore, the Solve-RD flagship project aims to resolve large numbers of the rare diseases cases for which no molecular diagnosis exists to date and also alleviate the diagnostic odyssey of patients.
EU research funding brings together a critical mass of resources and complementary expertise from universities, research organisations, hospitals, SMEs, industry and patient organisations across Europe and beyond, something no individual country could achieve alone.
The EU has also supported coordination between research funders across Europe and beyond. An important milestone was the launch, in 2019, of the European Joint Programme on Rare Diseases (EJP RD), which brings together partners from more than 135 institutions in 35 countries.
The EJP RD pools resources at national and European level at a scale never before achieved, with €100 million of investment - including €55 million from the EU - to ensure the rapid translation of research results into clinical applications and their uptake in healthcare. EJP RD crucially involves all 24 European Reference Networks, representing around 400 hospitals providing highly specialised care for complex or rare diseases.
Challenges posed by rare diseases are global in nature. The European Commission has therefore also been driving international research collaboration and coordination in the field since 2011, establishing the International Rare Diseases Research Consortium. The Consortium’s ultimate goal is to accelerate medical breakthroughs for all people affected by rare diseases.
“EU research funding brings together a critical mass of resources and complementary expertise from universities, research organisations, hospitals, SMEs, industry and patient organisations across Europe and beyond; something which no individual country could achieve alone”
The rare diseases community now embraces the challenges of consolidating earlier investments in research, reinforcing the pipeline “from bench to bedside and back” and ensuring that cost-effective treatments and diagnostic tools reach those people living with a rare disease. Horizon Europe (2021-2027), the next EU Framework Programme for Research and Innovation, will continue to support these efforts.
Horizon Europe will be a major tool to advance knowledge and should deliver innovative solutions for improving the health and wellbeing of citizens while supporting the transformation of healthcare systems.
Notably, a proposed European Partnership on rare diseases is expected to catalyse a systemic transformation in the area, with the goal of improving the quality of life for people living with a rare disease.