What a year it has been!
2007 has been a year of action and movement. Policy makers, patient organisations, scientists and industry have all done their share to ensure concrete solutions are being made available on behalf of rare disease patients across Europe. The most exciting of these is probably the Communication on European Action in the Field of Rare Diseases, now open for Public Consultation. Rare Diseases: Europe's Challenges will serve as a rich source for defining priorities and informing decisions for rare disease strategies in the present and future European Member State health policy programmes. OrphaNews Europe once again emphasises the importance of your response to this document, now available in all EU languages. If you haven't already done so, please take the time to review the Communication and offer feedback in the language of your choice. Your contributions will be published and made available to Members of Parliament, including those from your country.
Other achievements of the year include actions on the part of many Member States: Romania, Portugal, Italy, Spain and Greece are all busy creating a national plan for rare diseases, while Bulgaria, Ireland, Netherlands, Sweden, and Slovenia are discussing how to proceed in this arena. Denmark has just formed its first national rare diseases committee; Spain has created a major scientific cooperative for rare disease research (CIBERER) and is working to gain official recognition for genetic medicine; Italy has established a rare disease council; France created an additional 29 centres of reference for rare diseases, and continues to establish reimbursement policies that relieve the financial burden of rare diseases. France also held its annual Telethon, bringing awareness to the issues rare disease patients face while at the same time raising over 100 million euros in much needed funds. Meanwhile, Luxembourg produced a first study of its rare disease patients, with a view to creating policies to ease their burden; and Switzerland adopted orphan medicine legislation similar to EU regulations. Germany has decided to relaunch a call for funding for rare disease research networks. Belgium created a new rare disease website, while Hungary formed a national alliance for rare diseases this year. In the United Kingdom, regional and national initiatives in the areas of genetic research, rare disease diagnostics and paediatric clinical studies got off the ground in 2007.
At the European level, several conferences were hosted to further define priorities for rare disease policy and funding. Grant schemes continue to offer hope for rare disease research with new revenues available via FP7 for 2007-2013. This funding translates directly into innumerable advances in the areas of fundamental, clinical, gene, and treatment research.
The EC Rare Diseases Task Force held a number of important workshops and meetings and continues to move forward in a variety of arenas. Notably, the Coding and Classification working group is collaborating with the World Health Organization to make rare diseases more visible in the International Classification of Diseases. The Standards of Care working group is gearing up to assess the added value of European networks of centres of reference.
Genetic testing also saw some major progress with quality assurance standards being defined and implemented across Europe and other parts of the world. The OECD published its guidelines this year in order to ensure quality in molecular genetic testing throughout both OECD and non-OECD countries.
In terms of information, Orphanet, the free-access European portal for rare disease information, has been working hard to revamp its entire website. The new version will be available in six languages in early 2008 and features many exciting new services, such as the capacity to search diseases by signs or symptoms, and updates in many areas, including the disease and orphan drug databases. The new user-friendly version will also feature a gene link for each disease where available and offers a quality assessment for European genetic laboratories, provided by an expanding collaboration with EuroGentest.
Finally, the EMEA and the pharmaceutical industry made concrete contributions toward furnishing medicinal products for rare disease patients. Seventy-seven products received orphan designations this year. Thirteen new orphan medicines were granted marketing authorisations in Europe. The EMEA has formed a partnership with the FDA in the US to facilitate orphan drug application procedures in both regions.
Can 2008 sustain this momentum? 29 February - a day that occurs only once every four years - has appropriately enough been chosen as European Rare Diseases Day. The National Rare Disease Alliances of several EU countries, in partnership with Eurordis, have worked on this latest initiative to bring public attention and support to rare disease patients and their families. The slogan chosen this year will be A Rare Day for Very Special People and the theme is to be Rare Disease: A Public Health Priority, coinciding with the EC Communication on Rare Diseases. Other non-European countries are also considering adopting the day, which will take place on 28 February during the years that do not have a 29 February.
Subscriptions to OrphaNews Europe have surpassed 10,000. We welcome this year's new subscribers and wish all our readers a holiday season filled with joy. We look forward to collaborating with you in the new year to keep all rare disease actions and initiatives in perpetual motion.