Millions of Europeans suffering from one of the many rare diseases will have a new hope for improved diagnostics and better treatments and care, resulting in enhanced quality of life. This is thanks to a new research partnership launched by the European Commission. Working with a budget of over €100 million, of which €55 million will come from EU’s research and innovation programme Horizon 2020, the new European Joint Programme on Rare Diseases (EJP RD) will aim to make sure that new treatments and diagnostic tools reach those who need them the most.
Following the conclusion of a grant agreement, the EJP RD will launch on 1 January 2019. The announcement took place today at a meeting of the International Rare Diseases Research consortium (IRDiRC) in Brussels.
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.
Coordinated by the French National Institute of Health and Medical Research INSERM, the EJP RD will run over five years. It comprises more than 130 entities from 35 countries (including 27 EU Member States, seven Associated Countries and Canada). It brings together the resources at the national and European level involving research funders, universities, research organisations, research infrastructures, hospitals and patient organisations.
The EJP RD will involve all European Reference Networks. Through them, the programme 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.
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. It will reinforce the EU Digital Single Market in line with the Commission Communication on the Digital Transformation of Health and Care.
Rare diseases affect an estimated 30 million people in the EU and comprise 6000 to 8000 life-threatening or chronically debilitating diseases affecting less than five persons per 10 000 citizens in the EU. Often manifesting in childhood, rare diseases result in a shortened lifespan and lead to a dependency on care throughout the patients’ lives causing significant human suffering to the patients and their families. Patients affected by rare diseases often spend years enduring a “diagnostic odyssey” before receiving the correct diagnosis. Most rare diseases lack effective treatments representing an enormous unmet medical need.
Through successive framework programmes, the EU has invested over €1 billion in research into rare diseases, resulting in many successful projects.
The International Rare Diseases Research Consortium (IRDiRC) aims to accelerate and coordinate rare diseases research efforts around the world. It involves more than 50 organisations investing in rare diseases research including the European Commission. IRDiRC has the ambitious long-term vision to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.