Rare Disease Day takes place every year on the last day of
February. It is organised by EURORDIS, the European Organisation for Rare
Diseases and its National Alliances in 19 EU countries to raise awareness of
rare diseases and the 30 million people affected by them in Europe.
Rare diseases are life-threatening or chronically debilitating
diseases with a low prevalence and a high level of complexity. A disease is
defined as rare in Europe when it affects fewer than 1 in 2,000 citizens, so
from a handful to 250 000 people. The European Union estimates there are
between 6000 and 8000 rare diseases. 80% have a genetic origin, and the vast
majority affect children.
People affected by rare diseases face common challenges such as
long diagnosis delay, misdiagnosis, lack of information and support for
everyday life. Rare diseases have a dramatic and often invisible impact on the
whole family, as well as on society. Due to the diseases' low prevalence,
medical experts are also rare, knowledge is scarce, offer for care is
inadequate, research is limited and cures are almost non-existent.
This year’s theme is “Bridging Patients and Researchers.”
Scientific and medical progress offer new opportunities in the field of rare
disease research. Rare diseases have in turn made major contributions to
research and treatment discoveries for more frequent diseases.
The European Commission acknowledges rare diseases as a public
health priority with high European added value. The Commission communication
adopted in 2008 and the Council recommendation adopted in 2009, have become the
road map towards a European strategy as well as national plans for rare
diseases in all member countries before 2013.
One of the main objectives of this European strategy is to
support translational research through pan-European research infrastructures,
European Research Networks of Excellence, as well as development and
coordination of national research policy into an EU integrated approach. Rare
disease patient groups are often pioneering these efforts, bridging patients’
needs with researchers’ potential.
