Genetic origins
A rare disease, also called orphan disease, is a disorder that affects a small percentage of the population. Most rare diseases are genetic, others are the result of infections or allergies. Although the disease may be rare, patients and families share a common struggle. There is often no effective cure, a lack of scientific knowledge and a delay in diagnosis.

Quality of life
Alpha-mannosidosis is an example of a rare genetic disease with severe consequences. Patients suffer from mental retardation, skeletal changes, hearing loss and recurrent infections. Many patients die during early childhood. A therapy initiated shortly after birth may dramatically improve the life expectancy and quality of life of patients.

International collaboration
To fight rare diseases “international collaboration is crucial”, says Dr Arend von Stackelberg on www.HorizonHealth.eu. Dr von Stackelberg is Scientific Coordinator of IntReALL. This research project aims to improve the treatment of leukaemia in children with relapsed ALL: acute lymphoblastic leukaemia. ALL is a form of cancer of the white blood cells.

Combining expertise
The need to collaborate is confirmed by another researcher on rare diseases: Dr Sonia Berrih-Aknin, Scientific Coordinator of FIGHT-MG. “Research on rare diseases such as myasthenia gravis requires combining resources and expertise from many countries. We share facilities, skills, and knowledge. This enables us to radically improve the diagnosis and treatment of myasthenia gravis. It is great that Europe supports this initiative.”

All events
Rare Disease Day started as a European event, and now has become an annual worldwide awareness-raising event.
Find all events organised on Rare Disease Day. Also check Facebook for more information.