Priority Medicines for Europe and the World 2013 Update. Background Paper 6 - Priority Diseases and Reasons for Inclusion. BP 6.19 - Rare Diseases
(2013; 46 pages)


A disease is considered rare when it affects one person out of 2 000 or less. They are between 5 000 and 8 000 rare diseases, most of them genetic. A very rough estimate would be that in the world, one person out of 15 could be affected by a rare disease, this represents 400 million people worldwide of which 30 million Europeans and 25 million Americans. Rare diseases are serious chronic diseases, and are often life-threatening. While most genetic diseases are rare diseases, around 20% of rare diseases are not caused by genetic defects. There are very rare infectious diseases for instance, as well as auto-immune diseases and very rare poisonings. To date, the cause remains unknown for most rare diseases. This makes rare diseases truly a global health issue. In recent decades, considerable attention has been paid worldwide to stimulate the research, development and marketing of medicinal products for rare diseases. In the United States over 400 products have been approved as therapy in more than 200 rare diseases indications and in EU over 70 products for around 45 indications. Many orphan medicinal products are innovative, biotechnological products. Apart from treatments coming available, the introduction of various (research) programmes and networks has advanced understanding and diagnosis of rare diseases as well.

Despite this positive development overall the rare disease burden continues to persist. This persistence is due to lack of knowledge/training, lack of or delayed diagnosis, limited disease understanding, lack of treatment, and lack or limited access to therapy or medical care. Being a complex and heterogeneous mosaic of an estimated 5 000-8 000 conditions, it has become clear that the research need can differ considerably between groups of rare diseases.

In the area of rare diseases, there are many opportunities for the EU to build on the successful programmes, projects and networks that have been supported so far...

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