Stronger together in the fight against rare diseases

29 February is World Rare Disease Day. Up to 36 million people in the EU are living with a rare disease. Victor, a nine-year-old boy from Bucharest, Romania, is one of them. He was born with a rare condition known as Coffin-Lowry Syndrome. It took three years and tests in six countries to identify the cause of Victor’s severe psychomotor delays: a tiny mutation in one his genes.

For more than 20 years, the EU has made the fight against rare diseases a priority. Our goal is to improve the diagnosis and treatment of patients through cooperation and pooling of resources. Our 24 European Reference Networks unite rare disease doctors and specialised healthcare providers from 1 600 specialised centres in 382 hospitals all over the EU and Norway. They ensure access to knowledge, diagnosis, and treatment of rare diseases. Pooling resources and joint actions at EU level are particularly important:

• In the coming years, we will be investing more than €77 million to consolidate and improve these networks.
• To better integrate these networks in the national healthcare systems, we are allocating over €18 million for new joint actions over the next three years, which will also include Ukraine.
• Through the new European Partnership on Rare Diseases, we are providing €100 million to develop diagnostics and treatments.
• The reform of the EU pharmaceutical legislation will further promote investments in medicines for underserved rare disease areas.
• The European Health Data Space will make digital health data more available, benefitting patients with rare diseases.
• We will further develop the European Platform on Rare Disease Registration. The Platform collects data for the hundreds of rare diseases registries that exist across the EU, making this data available and searchable.

Victor’s syndrome is one of the more than 6 000 rare diseases in the EU. Most of them have no cure. Whilst one rare disease may affect only a handful of patients, another may touch as many as 250 000. Around 80% of rare diseases are of genetic origin and the majority start in childhood. Everyone has the right to a timely diagnosis, as well as affordable treatment and care. We stay committed to leaving no one behind, no matter where they live, no matter their disease.

For more information:

Rare diseases: What the EU is doing?

Factsheet on EU actions on rare diseases

Victor’s story

European Reference Networks

Statement by Commissioner Kyriakides on the World Rare Disease Day

European Health Union

Rare Disease Day