Rare Diseases are those affecting fewer than five in every 10 000 citizens. However, "rare" in this case can be a little misleading as the approximately 8.000 documented rare diseases are actually affecting between 27 and 36 million Europeans. This is hardly an insignificant number!
The particular challenges of researching, diagnosing and treating rare diseases are scarce and scattered knowledge, fragmented research efforts and, very often, expensive medicines. Cooperation at EU level therefore makes a real difference to rare diseases patients and their families.
The European Commission can help in many ways: pooling together knowledge and expertise, registries, data, funding and other incentives for research into finding new treatments and bringing them faster to market, and cooperation on bringing down the prices of medicines.
Indeed, on the research-side we have compensated for the lack of private funding by dedicating over €620 million to a range of health research projects to further understand rare diseases and promote new means of diagnoses and treatments (for the period 2007-2013). Many of the funded projects have started to yield significant results.
Under Horizon 2020, the current EU Research and Innovation funding programme (2014 to 2020), over €200 million has already been directed towards the area, with ten new treatment-related projects kicking off in early 2016. And the Health Programme has funded pilot registries for rare diseases, which we are developing into a European Platform for interoperable registries.
In the EU, we have the world’s largest information database for rare diseases, and we are now investing over 4 million euros on a new Joint Action to develop it further and to support work on the codification of rare diseases.
And our impact in the area of rare diseases goes beyond Europe. The International Rare Diseases Research Consortium (IRDiRC), launched in 2011, is the biggest collective rare diseases research effort worldwide, bringing together researchers from Australia, Canada, China, Japan, South Korea and the USA.
The Directive on patients’ rights in cross-border healthcare is also a significant step. Such rights to plan healthcare in another EU country and be reimbursed for it at home, are particularly important for rare diseases patients, where the best expertise for a particular rare disease can sometimes only be found in a handful of Member States.
Importantly, this EU legislation sets the basis for European Reference Networks for which we will launch a call for interest very soon. These networks should give more opportunities to share knowledge and pool expertise across the EU and potentially provide high-quality and cost-effective healthcare to many rare diseases patients in the EU.
Finally, the Commission, through its legislation on Orphan Medicines puts in place incentives for the research, marketing and development of medicines for rare diseases. This has resulted in an increasing number of products in development receiving an orphan designation. To date, the Commission has authorised 119 products for which 84% are new active substances.
Regarding the cost of orphan medicines, despite our limited competence in this area, the Commission supports the improvement of price information through the Euripid database and has recently finalised a study on pharmaceutical pricing.
These are just a few examples of EU added value in the area of rare diseases.
Today, on 29 February - a very apt date to promote collaboration on rare diseases - we call upon all researchers, patients’ organisations, medical professionals and the R&D and pharmaceutical industries to continue their efforts and actively support the ongoing initiatives at EU-level.
Let’s continue to show that we are stronger together!
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