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Editorial
21 European Member States endorse call to action on rare diseases
During the EPSCO Council on 9th December 2022 in Brussels, the Czech Presidency of the European Union Council presented their Call to Action in the area of rare diseases. The call received endorsement from 21 Member States, including the Czech Republic, thus demonstating a strong support from across the European Unionin favour of a new, comprehensive, European strategy for rare diseases.
The Call to Action was presented by Czech Minister for Health Vlastimir Valek as an outcome of the Czech Presidency Expert Conference on rare diseases in October. Minister Valek said "[We need] a common, shared plan for our initiatives, responding to unmet needs of patients, making care accessible and comparable across the EU. The call to action points out possibilities to create a European plan for rare diseases."
Prof. Milan Macek Chairman of the National Coordination Centre for Rare Diseases at UH Motol-Prague and the Czech National coordinator of Orphanet co-organised the meeting. Prof. Macek added "We are really grateful to" Rare Disease Czech Republic“, the overarching national alliance, for their strong support, and to our EURORDIS partners who had a major impact on the conference programme and its overall positive outcome. Such a broad European support would not be possible without them“.
The call to action asks for a European Action Plan on rare diseases that should:
- Bring together existing EU strategies and actions that impact rare diseases in a comprehensive framework
- Integrate and sustain EU and national plans and strategies for rare diseases on a long-
term basis. - Update and reinforce the last rare disease strategy from 2008/2009, to prepare better for the next 10-15 years and the continued challenges in terms of genomics, technology and scientific advances.
- Create an informal multistakeholder, multi-country working group to support the European Commission in establishing a scoreboard of indicators to monitor the implementation of the Action plan at the EU and national level, and to identify good
practices across disciplines and countries. - Introduce measurable goals to ensure that all Member States are working to the same objectives to reduce inequalities across the EU.
- Provide a mandate to the MDCG committee to render guidelines for EU-wide derogations from the IVDR so that genomic diagnostics could reach its full potential.
In reaction, Yann Le Cam, CEO of EURORDIS who have spear-headed the campaign for a renewed politicial engagement for rare diseases at European level said: "We now have political consensus on what we know to be true: more needs to be done to improve the lives of the 20 million persons living with a rare disease in the EU. We hope that this will serve as a wake-up call for the European Commission to unblock the road ahead to drive forward a coordinated, goals-based strategy on rare diseases in the EU.”
This outcome comes at the end of Czechia's EU Presidency in which this member state and its entire rare diseases community has pushed forward a strong agenda for rare diseases, through the two-day conference in Prague on “Building the future together for rare diseases” and a technical meeting, in July in Brno, on Newborn Screening. Rare disease stakeholders will be looking to Sweden, who takes up the EU Presidency in January, to maintain the momentum gathered through the French and Czech presidencies.
Orphadata Science granted Global Core Biodata Resource status
On 15 December 2022, the Global Biodata Coalition announced its first list of Global Core Biodata Resources (GCBRs). Amongst the 37 resources whose long-term funding and sustainability is deemed to be critical to life science and biomedical research worldwide figures Orphadata Science, which includes Orphanet's scientific knowledge base, nomenclature (ORPHAcodes) and ontologies.
This status comes 4 years after Orphadata Science received ELIXIR Core Data Resource in 2019, and makes Orphadata Science one of the 12 European resources to have been designated at international level by the Coalition.
The selected ressources are deemed to be essential to the management curation and access of research data, and are either deposition databases, or knowledge bases such as Orphanet, that draw together data and add value through expert curation and annotation. The Coalition, through a rigourous two-step application process and the implication of over 50 independent, expert reviewers, frames these open resources such as "keystone species in an ecosystem.... whose failure would have a critical impact on the global research endeavour".
The Coalition's partner funders will now work actively with the selected resources in order to determine the funding models that would assure the long-term sustainability of these resources so that they can develop and continue to serve the global research community.
Guy Cochrane, Executive Director of the GBC, said, “The announcement of the list will enable funders and biodata resources to come together to co-develop sustainability models that meet their needs, and ensure that these data resources are able to continue to support the global research community”.
Warwick Anderson, Chair of the GBC Board of Funders, said, "The quality and breadth of this list highlights the critical importance of GBC’s mission to ensure these fundamental resources receive long-term sustainable funding”.
Ana Rath, Director of Orphanet stated, "We are proud of this recognition of our constant work towards offering reference data to the rare disease research community, to be mined, combined and exploited for the generation of new knowledge on rare diseases."
Orphanet News
#Orphanet25 : A virtual celebration
Orphanet celebrated 25 years since its launch at the end of this year with the help of colleagues, key opinion leaders and myriad stakeholders from across the rare disease community, through a social media campaign. We also heard from Orphanet network members and those who work on the database on why they work for Orphanet. The wider rare disease community joined in by contributing with the #Orphanet25 hashtag to relate their use of Orphanet ressources.
Orphanet warmly thanks everyone for joining us in celebrating this anniversary. All the contributions will be compiled and published on the Orphanet website as a booklet to mark this occasion.
Norwegian e-Learning module on ORPHAcodes
The Norwegian National Centre of Rare Diseases has developed an e-Learning module in Norwegian dedicated to ORPHAcodes, their implementation and their use in the Oslo University Hospital health information systems.