Joint Action launches Orphanet into the next dimension
Orphanet was created in 1997 to address identified problems in the field of rare diseases, including a lack of information, scarce expertise, patient isolation and a lack of collaboration in research. Initially a French organisation, Orphanet began branching out throughout Europe ten years ago and is present today in almost 40 pan-European countries. Orphanet is accessed over 20,000 times per day, by users in more than 200 different countries. The rare disease information portal has now taken another important step forward with the Joint Action, an instrument that combines funding from the European Commission with each of the participating Member States (MS), as well as from Switzerland, a collaborating partner. The three-year €7.2 million Joint Action began on 1 April and the first Kick-Off Meeting, gathering all national country coordinators and MS health representatives to a one-and-a-half-day meeting in Paris took place on 7 and 8 June. The meeting had a rich agenda, which included reviewing the contents and operating procedures of Orphanet, brain-storming to identify priority actions on the national and European levels, and establishing governance.
Orphanet is identified as a strategic instrument for the rare disease national strategies that each MS is encouraged to develop by the end of 2013 under the Council Recommendation on an Action in the Field of Rare Diseases (2009/C151/02) adopted on 9 June 2009. The overriding aim of the Joint Action is to improve and adapt the presence of Orphanet in each participating country. Objectives thus include improving the existing services –including the inventory of rare diseases and the classification being elaborated via a collaboration with World Health Organization expert groups; concentrating on expanding and updating the core encyclopaedia of rare diseases; and annotation with signs and symptoms. Developing new tools and services are also objectives of the Joint Action, including building an Orphanet ontology and developing several new services. Priority initiatives that are natural to the Joint Action include expanding the language availability of the Orphanet database and related documents. Polish and Flemish are amongst languages that could be added soon to the six official existing European languages of the site (English, French, German, Italian Portuguese, and Spanish). The Orphanet Clinical Guidelines were also amongst the documents considered a priority for translation into national languages. Capitalising on the newly developed Orphadata tools (learn more) the Joint Action country partners will be able to customise the popular Orphanet Report Series to feature national data. Orphanet country sites will also be developed under the Joint Action, allowing each country to feature its own special mix of news, publications and events related to rare diseases and orphan drugs in its own language. Orphanet will also become a more interactive site via the activities of the Joint Action. Indeed, the “IT side” of Orphanet was presented and discussed, including the new challenges expanded services and languages engender.
Putting in place appropriate governance is one the biggest changes the Joint Action ushers in, one which will encompass all the partner countries in the Steering Committee, in charge of supervising national activities and formulating future strategies. The Orphanet Joint Action will also have an external International Advisory Board which will report to the Steering Committee and review all the Joint Action activities.
Within the framework of the Joint Action, Orphanet seeks to become more cost-effective, more user-friendly and to achieve sustainability. Despite an immense number of complex challenges and opportunities the Joint Action creates for the Orphanet country partners, the meeting participants moved bravely forward, always keeping their eyes on the ultimate prize: improving conditions for rare disease patients and their families throughout Europe and beyond.