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Health-EU newsletter 231 - Focus

Connecting the dots to get a clearer picture: the European Platform on Rare Disease Registration

Simona Martin, Scientific Officer at the European Commission Joint Research Centre, Directorate F – Health, Consumers and Reference Materials, talks about the new European Platform on Rare Disease Registration launched at the occasion of Rare Disease Day on February 28.

Why was the European Platform on Rare Disease Registration set up?

The Platform, developed by the Commission's Joint Research Centre in collaboration with the Directorate General for Health and Food Safety, was set up to cope with the enormous fragmentation of rare disease patients data, contained in hundreds of registries across Europe.

The Platform makes it easy to find data on RD registries, facilitates data sharing between registries and sets EU-level standards for RD data collection and exchange. Providing the European RD Registry Infrastructure, it also supports existing registries and the creation of new ones. For many years, these needs were unmet.

Is the Platform therefore a registry of patient registries?

Not only. One component of the Platform is the European Directory of Registries, which provides an overview of the participating registries with their main characteristics and description. It’s a one-stop shop for finding and contacting registries of interest. Each registry thus gains visibility, the value of each registry's information is boosted and existing patients’ data can get extended use and re-use. Other important components that should be mentioned are the Central Metadata Repository and the pseudonymisation tool.

Why is this important?

More than 30 million citizens live with a rare disease in the EU, and they deserve to get better diagnosis and treatment. A disease is defined as 'rare' when it affects fewer than 5 people in 10,000, but a multitude of different rare diseases exist, more than 6,000. The Platform will act as a knowledge-generating centre helping healthcare providers, researchers, patients and policy-makers to improve patient care and healthcare planning. Studies and research will also be facilitated and the Platform will support the work of the European Reference Networks, which were founded on the principle that knowledge should travel, not the patients.

Why is this supported by the EU?

Based on the characteristics of rare diseases, no single institution and in most cases no single Member State has enough patients to conduct meaningful studies. That's why an initiative at EU level has a high added-value. The Commission has supported rare disease activities for more than 20 years, fostering network structures, developing policy frameworks together with Member States, supporting Member States in implementing plans and learning from each other, and encouraging innovative approaches, like the European Reference Networks. Codification, registration and inventory of rare diseases are among the key elements in this European response. Our new platform fits really well within this broader picture.

What can we expect in the future?

The Joint Research Centre and the Directorate General for Health and Food Safety will continue to work to improve the recognition and visibility of rare diseases, support policies in the Member States and develop cooperation and coordination for rare diseases at EU level. The Platform is a huge step forward. We know it is going to be a valuable resource and will help improve the lives of rare disease patients.

Activities at EU level

Rare Diseases

European Commission – Health and Food Safety

European Reference Networks

European Commission – Health and Food Safety

European Platform on Rare Disease Registration

European Commission – Joint Research Centre

Commission research activities in the area of rare disease

European Commission – Research and Innovation


Commission launches the European Platform on Rare Disease Registration on Rare Disease Day!

The European Commission has launched an online knowledge-sharing platform to support better diagnosis and treatment for more than 30 million Europeans living with a rare disease.

See the videos, read the stories, share the excitement of Rare Disease Day!

Organised by the Eurordis Rare Diseases Europe, this annual event raises awareness and hopes too, as people with rare disease and their friends and families share real-life stories, challenges and successes.

Joint Research Centre releases the Set of Common Data Elements for Rare Disease Registration

This Set is recommended as a constitutive element for all RD registries in Europe and was considered by stakeholders to be an important standard provided by the European Platform on Rare Disease Registration and a first step towards interoperability of rare disease registries.

Get an overview of the European Platform on Rare Disease Registration

This presentation gives a clear and easy overview of what the Platform does and why it was established.

Commission establishes €100 million partnership to boost research into rare diseases

A new research partnership launched by the European Commission aims to make sure that new treatments and diagnostic tools reach those who need them the most. Of the €100 million budget, €55 million will come from EU’s research and innovation programme Horizon 2020

Commission Steering Group discusses European Platform on Rare Disease Registration

The new Platform was among several topics discussed at second formal meeting of the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases, which took place on 14 February 2019.

400 experts meet to discuss results and challenges at the 4th Conference on European Reference Networks

This two-day event last November brought together national authorities, healthcare providers members of the ERNs, health professionals, hospital managers, patients' representatives and representatives from EU Institutions. Read the presentations here.

European Reference Networks are building a common training and eLearning strategy

In its first face-to-face meeting hold in Brussels on the 18th February 2019, the ERN Working group on Knowledge Generation decided to build a common training and eLearning strategy. Read more about it here!

Health Programme Projects

Orphanet Network

This European Knowledge base dedicated to RD and orphan drugs is one of the key actions the Commission has contributed to in order to address key priorities in the field of Rare Diseases.

EU Health Programme supports some 45 Rare Disease initiatives

Various Rare Disease projects and organisations are or have been supported through the European Commission’s Health Programme. Consult the project database published by the Consumers, Health, Agriculture and Food Executive Agency.

Other interesting links

EURODIS Rare Diseases Europe

EURORDIS Rare Diseases Europe is a non-governmental patient-driven alliance of patient organisations and individuals active in the field of rare diseases, dedicated to improving the quality of life of all people living with rare diseases in Europe.

EURORDIS receives an Operating Grant via the EU Health Programme

Rare Disease Registries in Europe: May 2018 report

This report gathers the information collected on systematic collections of data for a specific disease or a group of diseases.

Orphanet Aggregated Data

Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases

The Steering Group provides advice and expertise to the Commission on developing and implementing activities in the field of health promotion, disease prevention and the management of non-communicable diseases.

Best Practice Portal

This portal is a "one-stop shop" for consulting good and best practices collected in actions co-funded under the Health Programmes and for submitting practices for assessment.

ERA-Net for Research Programmes on Rare Diseases

The current E-Rare-3 project will extend and strengthen the transnational cooperation on rare disease research funding organizations in the 5-year period of 2015-2019.

European Reference Networks: Helping Patients with low-prevalence rare or complex diseases

This brochure explains what the European Reference Networks are, how they work and who they benefit.

Video explains how the European Reference Networks benefit patients in the EU

See how this EU initiative brings expertise and specialist advice to rare and complex disease patients across Europe.