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About Rare Diseases About rare diseases policies

About Rare Diseases

What is a rare disease?
Rare diseases are diseases which affect a small number of people compared to the general
population and speci�c issues are raised in relation to their rarity. In Europe, a disease is
considered to be rare when it affects 1 person per 2000. A disease can be rare in one region, but
common in another. This is the case of thalassemia, an anaemia of genetic origin, which is rare in
Northern Europe, but it is frequent in the Mediterranean region. 'Periodic disease' is rare in
France, but common in Armenia. There are also many common diseases whose variants are
rare.

How many rare diseases are there?

There are thousands of rare diseases. To date, six to seven thousand rare diseases have been
discovered and new diseases are regularly described in medical literature. The number of rare
diseases also depends on the degree of speci�city used when classifying the different
entities/disorders. Until now, in the �eld of medicine, a disease is de�ned as an alteration of the
state of health, presenting as a unique pattern of symptoms with a single treatment. Whether a
pattern is considered unique depends entirely on the level of de�nition of our analysis. The more
accurate our analysis, the more we notice certain nuances. This complexity is re�ected in the
various classi�cations provided by Orphanet.

What are the origins and characteristics of rare diseases?

While nearly all genetic diseases are rare diseases, not all rare diseases are genetic diseases.
There are also very rare forms of infectious diseases, such as auto-immune diseases and rare
cancers. To date, the cause remains unknown for many rare diseases.

Rare diseases are serious, often chronic and progressive, diseases. For many rare diseases,
signs may be observed at birth or in childhood, as is the case of proximal spinal muscular
atrophy, neuro�bromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome.
However, over 50% of rare diseases appear during adulthood, such as Huntington diseases,
Crohn disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma or
thyroid cancer.

What are the medical and social consequences of the rarity of these
diseases?

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Orphanet: About rare diseases https://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.ph...

The �eld of rare diseases suffers from a de�cit of medical and scienti�c knowledge. For a long
time, doctors, researchers and policy makers were unaware of rare diseases and until very
recently there was no real research or public health policy concerning issues related to the �eld.
There is no cure for most rare diseases, but the appropriate treatment and medical care can
improve the quality of life of those affected and extend their life expectancy. Impressive
progress has already been made for certain diseases, which shows that we must not give up the
�ght, but on the contrary, continue and step up efforts in the �elds of research and social
solidarity.

Those affected by these diseases all face similar dif�culties in their quest for a diagnosis,
relevant information and proper direction towards quali�ed professionals. Speci�c issues are
equally raised regarding access to quality health care, overall social and medical support,
effective liaison between hospitals and general practices, as well as professional and social
integration and independence.

Those affected by rare diseases are also more psychologically, socially, economically and
culturally vulnerable. These dif�culties could be overcome by appropriate policies. Due to the
lack of suf�cient scienti�c and medical knowledge, many patients are not diagnosed and their
disease remains unidenti�ed. These are the people who suffer the most from dif�culties in
receiving appropriate support.

What progress is foreseen in the diagnosis and treatment of rare

diseases?
For all rare diseases, science can provide some answers. Hundreds of rare diseases can now be
diagnosed through a biological sample test. Knowledge of the natural history of these diseases
is improved by the creation of registries. Researchers are increasingly working through
networks in order to share the results of their research and to advance more ef�ciently. New
hopes arise with the perspectives offered by European and national policies in many European
countries in the �eld of rare diseases.

How can I obtain information about a specific disease?

Orphanet provides an inventory of rare diseases and related information for over 6000 of these
diseases, as well as a directory of expert resources in the countries of the consortium.

Last update: 25/10/12

About rare diseases policies 

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