Integration of RD initiatives

The aim of the work theme is to integrate the different strands of work with which the Joint Action is involved, together with the activities of EUCERD more widely, in order to support the implementation of the Commission Communication and Council Recommendation on rare diseases (RD). Numerous initiatives and activities have been supported by the EU (politically and financially) and the resulting tools and resources – including patient registries, biobanks, care guidelines and networks – need to become integrated and sustainable. This work theme will therefore analyse the current state of play of these initiatives and promote collaboration by creating forums for stakeholder interaction. The main objectives here are grouped under four task areas.


Integration of Registry activities

This task, led by Thomas Wagner, will integrate the activities of RD registries with initiatives such as EPIRARE, PARENT-JA and IRDiRC, to demonstrate how they fit into the overall picture. The relationship between national and disease-specific registries will be defined. Furthermore, the team will provide appropriate support for new registry initiatives, ensuring they comply with best practice and are compatible with existing initiatives.

The work theme will produce:

  • A dedicated EUCERD working group on registry implementation
  • Annual reports on the state of registry development and implementation
  • A ‘syllabus’ of terminology and a common data set suitable for all types of registries


Working documents:


Policy Support for Rare Disease European Reference Networks (RD ERNs)

The focus here is on ‘networking the networks’ – integrating the networks and projects already out there by uniting disease-specific RD expertise to contribute to the planning process for robust, sustainable RD ERNs. The work theme aims to foster optimum cooperation and collaboration between all stakeholder groups, to enable RD patients to receive the best possible healthcare via future ERNs.

The work theme will produce:

  • A dedicated EUCERD working group on RD ERNs
  • Annual reports on the implementation of RD ERNs
  • A set of EUCERD Recommendations for RD ERNs, to provide guidance to the Member States and the European Commission



Integration of Genetic Testing Strategies

The team – led by Helena Kääriäinen – will liaise with key players in the genetic testing field (in particular EuroGentest and the European Society of Human Genetics) to promote cross-talk between MS and healthcare providers, incorporating quality assurance issues and cross border plans for genetic testing networks. The work theme will also integrate with the relevant EU projects to ensure the latest technological advances in genetic testing are appreciated and employed appropriately.

The work theme will produce:

  • An overview of current genetic testing strategies and standards, to inform MS
  • EUCERD advice/recommendations to MS on implementing new developments in genetic testing (in particular, next generation sequencing strategies)



The EUCERD and EC Joint Research Centre held an expert workshop on the genetic testing offer in Europe in Ispra on 19-20 November 2012, on which this work will build.


Promoting cross-talk amongst Rare Disease stakeholders

This aspect of the ‘Integration’ work theme focuses on strengthening communication across the numerous stakeholder groups that make up the RD community. The aim is to optimise communication between the Joint Action partners and work themes and across EUCERD itself, encouraging its members to disseminate information to their respective MS and affiliated groups. More widely, the team will facilitate flexible cross-talk with any relevant initiatives and organisations, and the European Commission. Particular emphasis is placed on communicating effectively to help support and integrate initiatives on key RD issues, including centres of expertise, national plans/strategies for RD and the generation and dissemination of best practices guidelines.

The work theme will produce:

  • A Communications working group to oversee these activities and provide rapid and clear targeted communication with key contacts in the MS
  • Long-term sustainability strategies for the various thematic areas



Work theme leader:

Kate Bushby – Institute of Genetic Medicine, Newcastle University

Kate Bushby was Vice-Chair of the EUCERD and is coordinator of the EUCERD Joint Action. She is Professor of Neuromuscular Genetics at Newcastle University, and Deputy Director of the Medical Research Council Centre for Neuromuscular Diseases.

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