Rare diseases only affect a small percentage of the population, but collectively they impact millions of people. Up to 36 million European Union citizens are suffering from a rare disease today. These patients often face frustration, discomfort and fear as they struggle to find out what is wrong or how to deal with it. When it comes to tackling rare diseases, the added value of EU action is undisputable. With national resources and expertise so scarce in this area, an EU approach helps to maximise EU countries’ efforts and create economies of scale.
In our European Health Union, we are determined that no one should get left behind. We work to protect and promote the health of every citizen, and that includes those living with rare diseases. We want to help these patients get fast and accurate diagnoses, as well as the treatment and care they need. We also want to accelerate the work on treatments for the many rare diseases which currently having no medical solution. That is why the European Commission has given such high priority to the work on rare diseases for more than 20 years and has entrenched it in the framework of our Health Union.
The reform of the EU’s pharmaceutical legislation, proposed last year, aims to improve access to safe and effective medicines for all. Patients with rare diseases have not been forgotten in our proposals. On the contrary, we have proposed tailored incentives for industry to develop medicines where people need them most. People with rare diseases should benefit directly from new measures to encourage investment in orphan medicines and to reward exceptional therapeutic solutions for underserved rare diseases, where the unmet medical need is higher. We are also providing support for orphan medical devices and will examine whether specific legislative measures are needed in the framework of the EU Medical Devices Regulation to ensure availability of medical devices needed to treat or diagnose rare diseases.
By prioritising collaboration and placing patients at the heart of decisions, the EU has become a trailblazer in the fight against rare diseases
Research and development are key to improving the outlook for rare diseases, given the large knowledge gaps that exist today. Our proposal for the European Health Data Space will make digital health data more available for research and innovation activities, thereby improving scientific insights into rare diseases. We are also providing financial support for rare diseases under the Horizon Europe programme, including €100m to develop diagnostics and treatments under a new European Partnership on Rare Diseases. This type of investment can be literally lifesaving for patients in the years ahead.
A major EU success story has been the European Reference Networks (ERNs), set up to connect healthcare providers specialised in rare diseases across the region. At the heart of the work of the ERNs lies the goal of supporting patients and families with rare diseases. In some ERNs, patient representatives play a key role in drafting and reviewing publications, providing essential information on patients’ needs and helping to improve disease knowledge and management.
Today, over 1,600 specialised centres located in 382 hospitals are involved in the ERNs, and the Commission is investing heavily to reinforce them. We are providing direct grants, worth €77 m, to improve these networks in the next four years, and another €18m to integrate them into national health systems. I am proud to say that our ERNs have become a model to follow worldwide. They will remain a powerful instrument in our work on rare diseases in the years ahead.
By prioritising collaboration and placing patients at the heart of decisions, the EU has become a trailblazer in the fight against rare diseases. It is crucial that this momentum is sustained. The fast-paced advances in science and technology give cause for hope to those suffering from rare diseases. The Commission will do everything it can to continue to support improvements in this field, so that we turn that hope into reality.
Read more about Rare Disease Day on our Rare Disease Hub or in our Rare Disease supplement.