Rare diseases

In Europe, a disease is considered to be a rare disease if less than 1 person in 2000 is affected by the disorder. About 7000 such disorders are known world-wide.r

Unusual as this may seem, rare diseases are numerous; 7000 of these diseases are known but a lot more of them probably exist. In total, it has been estimated that 3 million individuals suffer from rare diseases in France, 30 million in Europe and a similar number in the United States.

Of these rare diseases, some are more frequent than others.

  • About 50 such diseases affect several thousand patients, such as sickle-cell anemia, Ménière’s disease, Marfan’s syndrome, and Duchenne muscular dystrophy, for example.
  • About 500 diseases (leukodystrophy etc) affect several hundred patients.
  • The majority of these pathologies only affect several dozen patients world-wide. This is the case in progeria, the disease which is characterized by premature aging.

It is estimated that 80% of rare disease are of genetic origin. With no exceptions,   genetic diseases are all rare. These can be neuromuscular pathologies as well as other diseases of the nervous system, or severe defects of vision.

The 20% of rare diseases which are not genetic may be due to:

  • Infections (legionellosis, etc)
  • Auto-immunity, i.e. when the immune system turns against the patient (lupus erythematosis)
  • Cancer

In addition to the symptoms due to the pathology, rare diseases create numerous social problems.

  • Uncertain diagnosis is a constant: these diseases are poorly known and difficult to diagnose. There is often a long delay between the first symptoms and the moment when one can finally give a name to the disease..
  • Difficulty in getting access to experts on the disease for regular treatment. Experts are few in number and therefore rarely found close to where the patient lives.
  • Lack of treatments: since these diseases affect only a few individuals, they have not been studied as much as other diseases because in cases in which treatments have been found and commercialized, they are less “profitable”. If no treatment exists, these are known as “orphan diseases”, which should not be confused with rare diseases.
  • Daily care: Many rare diseases are severe and lead to major disability; it is important to organize care in order to preserve as much autonomy as possible. They often require the presence of a full-time care-giver. There are not many resources for this at the moment.
  • Isolation: These diseases are not well-known, leading to fear and isolation of the patient.

The Institute of Biotherapies, founded by AFM-Telethon, is devoted to research on therapeutic solutions for rare diseases.

Furthermore, AFM-Telethon is a founding member of the Foundation for Rare Diseases and the Rare Diseases Platform which includes all the organizations in France and in Europe which fight against rare diseases.

For more information

Rare disease plateform

Fondation Maladies rares (in French)