Rare Disease Day: a new EU platform to support better diagnosis & treatment
To mark Rare Disease Day, the EC is launching a new online knowledge-sharing platform to support better diagnosis & treatment for more than 30m Europeans living with a rare disease.
Currently a vast amount of data on patients with specific conditions is scattered across Europe in about 600 'registries' – databases that hold information on patients with specific conditions. Data is not collected EU-wide and there are no shared standards to analyse the information that is available on rare diseases. The new European Platform on Rare Diseases Registration will bring this data together supporting the quality research that can enhance diagnosis and treatment outcomes - helping to improve the lives of patients and their families.
Vytenis Andriukaitis, Commissioner for Health and Food Safety, said: "Rare diseases present a health challenge where action and collaboration at EU level has clear added value. Connected, we are so much greater than the sum of our parts. This new EU Platform on Rare Diseases Registration will address the fragmentation of rare diseases data, promote the interoperability of existing registries and will help to create new ones Moreover, the Platform will also be useful for the work of European Reference Networks, real EU success story, allowing them make use of anonymised information from a large pool of patients and offer better treatment to those in need."
Tibor Navracsics, Commissioner for Education, Culture, Youth and Sport, responsible for the Joint Research Centre, said: "This platform will help scientists, policymakers and patients alike make the most of data on rare diseases that have, until now, remained largely untapped. By setting EU-wide standards for data collection and exchange, the platform will also mean that information collected in the future can more easily be compared across Europe. And patients can rest assured that their private data will remain private – while benefiting from improved diagnosis and treatment."
A rare disease can affect someone from birth, like cystic fibrosis, or it can develop later in life, like Huntington's disease. Despite the large total numbers of those affected in Europe, information on effective diagnosis and treatment strategies are not collected in a uniform way and are often not shared among registries or across countries. As a consequence, patients often suffer alone with little or no hope of being cured.
There are in fact very few national rare disease registries in the EU – most are managed by individual hospitals, research institutions, pharmaceutical companies or patient advocacy groups. The type of data collected varies widely. Some are focused on developing medicines for particular diseases, while others may be more interested in tracking instances of rare diseases over time, for example.
The new platform will substantively improve this situation. Available online and open to the public, it merges registry data sources to foster the critical mass of patient data needed to trigger pharmacological, translational or research studies.
The Platform includes a registry infrastructure consisting of:
- the European Directory of Registries, which gives an overview of each participating registry;
- the Central Metadata Repository, which stores all types of variables used by the registries;
- a data protection tool, which makes sure patient data is held under a pseudonym and cannot be traced back to the individual.
By providing EU standards for data collection and data sharing, the platform will for the first time make it possible to search data of rare disease patients. This significant achievement will allow the creation of critical knowledge for a given disease, enabling research and supporting patients, health care providers and policy-makers.
The platform will be an important asset for the European Joint Programme on Rare Diseases which aims to establish a research and innovation pipeline for rapid translation of research results into clinical applications and uptake in healthcare. Through this programme, the platform resources can be used in future research projects and disseminated to a wider community of rare disease researchers, clinicians and patients in the EU and beyond.
The European Platform on Rare Diseases Registration supports the objectives laid out in the Commission Communication on Rare Diseases: Europe's challenges and the Council Recommendation on an action in the field of rare diseases. These documents have guided the European response to rare diseases over the past decade, identifying codification and inventory of rare diseases as elements of such a response.
It also supports the implementation of the Directive on the application of patients' rights in cross-border healthcare, notably the rare diseases-related work of the European Reference Networks. These connect medical specialists and researchers and provide advice to patients based on the principle that the knowledge travels, not the patients.
Rare diseases have been a priority for EU Framework Programmes for Research and Innovation for over two decades. By enhancing the interoperability and re-usability of registry data, the platform also supports EU funded research and innovation to respond to rare diseases-related challenges.
As the European Commission's science and knowledge service, the Joint Research Centre supports EU policies with independent scientific evidence throughout the whole policy cycle.
- Nathalie VANDYSTADT (+32 2 296 70 83)
- Anca PADURARU (+ 32 2 299 12 69)
- Joseph WALDSTEIN (+ 32 2 29 56184)
- Aikaterini APOSTOLA (+32 2 298 76 24)
Latest News from
President Michel’s MFF proposal not acceptable for Parliament21/02/2020 09:25:00
Ahead of a special summit on 20 February, the EP’s negotiating team expresses its opposition to President Michel’s proposal for the next long-term budget.
Budgetary Control Committee asks for stronger measures to protect EU spending20/02/2020 15:25:00
On Wednesday, the Budgetary Control Committee signed off on the Commission’s 2018 budget, but rules to fight fraud and conflict of interest must be strengthened.
COVID-19 outbreak: Commission supports repatriation of EU citizens from cruise ship in Japan20/02/2020 12:25:00
The EU is co-financing the repatriation of EU citizens from the Diamond Princess cruise ship docked in Yokohama, Japan, thanks to flights from Italy mobilised through the EU Civil Protection Mechanism.
Shaping Europe's digital future: Commission presents strategies for data and Artificial Intelligence20/02/2020 11:38:00
The EC has unveiled its ideas and actions for a digital transformation that works for all, reflecting the best of Europe: open, fair, diverse, democratic and confident.
Fabio Panetta: Deepening & widening Economic and Monetary Union: finding the right speed19/02/2020 13:20:00
Introductory remarks by Fabio Panetta, Member of the Executive Board of the ECB, at the European Parliamentary Week.
"EU Budget risks being a failure for people & a gift to populism" warns CoR President19/02/2020 12:20:00
The European Committee of the Regions (CoR) asks to preserve funds for hospitals, schools, local transport, environment, universities and small businesses.
Council sets its priorities for the 2021 EU budget19/02/2020 11:20:00
The Council adopted the following conclusions setting out its priorities for the 2021 EU budget.
Human rights: EU adopts conclusions on EU priorities at UN Human Rights Fora in 202018/02/2020 13:25:00
On the occasion of the year marking the 75th anniversary of the entry into force of the UN Charter, the Council conclusions reaffirm EU's commitment to the rule-based international order – human rights protection being an important part of it.
Consultation on Air Quality - Executive Summary14/02/2020 12:20:00
The Secretariat of the Commission for Environment, Climate Change and Energy (ENVE) of the CoR is in the process of informing other EU institutional and non institutional actors about the Implementation Report of the consultation on Air Quality, whose Executive Summary is already available here.