Joint Actions for Rare Diseases


RD-ACTION: Data and Policies for Rare Diseases

What is it? RD-ACTION is the current European Joint Action for Rare Diseases (RD), and can be viewed as a successor to the EUCERD Joint Action (see below). Joint Actions are designed to foster pan-European collaboration: they focus on issues too vast or complex to be addressed at the national level, and rare diseases fall into this scope perfectly.

Goal: The principal goal of RD-ACTION (2015-2018) is to help EU Member States implement the recommendations of the European Commission Expert Group on Rare Diseases (CEGRD), and to produce the data necessary for countries to advance and improve their rare disease programmes. There are two major ‘halves’ to this initiative: one half concerns the Orphanet database for RD and is led by the Orphanet Director Prof. Ana Rath. The second concerns RD Policy Development and Implementation: this latter workstream is led Prof. Kate Bushby and Victoria Hedley of the John Walton Centre. The project overall is coordinated by Ana Rath.

Funding: RD-ACTION unites 34 beneficiaries and 30 collaborating partners from 40 countries, with a total budget of 8.3 Million Euros.

Main Achievements and Impact:

  • A major achievement of the JWMDRC-led activity was support for the conceptualization and then implementation of pan-European expert Networks which, together, will provide a ‘home’ for each of the 8000+ RD.
  • The concept of a ‘European Reference Network’ or ERN really gained shaped under the EUCERD Joint Action and RD-ACTION advanced this role substantially, by supporting the broader rare disease field to organise itself into a manageable number of robust, comprehensive ERNs.
  • The RD team at JWMDRC played a key role in enabling 24 ERNs to be launched in 2017, marking a major innovation in care -and research- for Europe’s 30+ million RD patients.
  • Having supported the creation of ERNs, the Policy & Integration workstream has continued to help the Networks address shared policy challenges through common approaches and solutions.

The other major focus of the Newcastle team over the last 2 years was reshaping and relaunching a crucial and unique resource in the rare disease field: the Resource on the State of the Art of Rare Disease Activities in Europe.


EUCERD Joint Action

What it is: In 2011, the EUCERD was created via Decision (2009/872/EC). This body was mandated to support European countries in formulating and implementing policies pertaining to RD. Kate Bushby served as Vice Chair of the EUCERD across its lifespan (and was one of 4 individual experts in the successor body the Commission Expert Group on RD, which inherited the same mandate but was Chaired Directly by the European Commission Directorate General for Health and Food Safety.

In 2012, to support this high level body, the JWMDRC team (led by Kate Bushby) coordinated a three year (2012-2015) ‘Joint Action’ in the field of rare diseases.

Goal: was to assist the European Commission and especially the EUCERD (through this, all EU Member States policy-makers and ministries of Health) in the formulation and implementation of policies and activities to support Europe’s rare disease community.

Funding: the project had a budget of 5.5 million Euros.

Main Achievements and Impact: The project generated policy advice and directly prepared high level Recommendations for adoption by the EUCERD and consequent implementation in Member States (including the UK). The EUCERD Joint Action (i.e. the team led by the JWMDRC) directly drafted 6 of the 8 sets of Recommendations issued by the EUCERD and its successor, the Commission Expert Group on Rare Diseases. In preparing these Recommendations, the team was essentially influencing policy-making across 28 EU Member States, advising decision-makers in each country on issues such as:

  • How to designate Centres of Expertise for rare diseases;
  • How to establish registries for rare diseases
  • What to include in a national plan or strategy for rare diseases