Helping the 5 in 10 000: Innovative therapies against rare diseases

Rare Disease Day is observed on the last day of February to raise awareness with policymakers and the public for all rare diseases and the impact that they have on the lives of patients. There are over 6 000 rare diseases that affect over 300 million people worldwide, with between 27 and 36 million in Europe alone. 80 % of rare diseases are of genetic origin but can also include rare cancers, auto-immune diseases and congenital malformations. A disease is considered rare in Europe if it afflicts fewer than 5 in every 10 000 people.

Not common but not forgotten

What makes diagnosing and treating patients with rare diseases more difficult is the fact that patient populations (as well as disease experts) are spread across the continent and that many conditions falling under the ‘rare diseases’ umbrella are difficult to diagnose and classify. One rare disease might affect only a handful of patients across the entire EU, whilst another could affect up to 245 000. Consequently, many patients find it difficult to access a high quality of care and treatment. That’s why EU-wide funding through Horizon 2020 and its predecessor, the Seventh Framework Programme (FP7), plays such a vital role in rare diseases research in Europe. From 2014 to 2020, nearly EUR 900 million of funding has been made available to more than 160 collaborative projects related to rare diseases. By encouraging multinational cooperation, scarce knowledge and resources can be better utilised so that rare diseases can be more efficiently tackled across the entire EU. This month’s special feature of Research*eu magazine is focusing on seven recently-finished or soon-to-be-finished EU-funded projects that are working to bring hope to the millions of EU citizens that are afflicted by rare diseases. One of our featured projects is hoping to bring forward an effective treatment for Batten disease, an extremely rare neuro-degenerative disorder that mostly impacts children. Another project is leading the work on employing the drug nitisinone to treat patients suffering from alkaptonuria, also known as ‘black bone disease’. Other rare diseases covered in this issue that you may not have heard of include fancomi anemia (FA) and ataxia telangiectasia, also known as Louis-Bar syndrome. But this is exactly why we’re covering them and supporting heightened awareness in anticipation of Rare Disease Day – because not only do patients deserve to have their stories told but there also needs to be wider dissemination of the innovative research being carried out that aims to provide them with the treatments and therapies they need to live longer, happier and fulfilling lives. We look forward to receiving your feedback. You can send questions or suggestions to: editorial@cordis.europa.eu