Diseases are said to be rare when they affect one person in 2,000, i.e. more than 3 million French people and at least 30 million European citizens.
In France, they represent a major public health issue because the 7,000 rare diseases identified to date affect 4.5% of the French population. Half of them concern children under 5 years of age and are responsible for 10% of deaths between one and five years of age.
80% of rare diseases are genetic in origin. The others are caused by infections (bacterial or viral), allergies or environmental factors.
Most often, they are severe, chronic, progressive and considerably affect the quality of life of patients. They result in motor, sensory or intellectual deficits in 50% of cases and a total loss of autonomy in 9% of cases. Rare diseases affect a limited number of people and are characterized by a wide range of symptoms, which vary from one disease to another, but also from one patient to another for the same disease. They therefore pose specific problems related to this rarity.
identified rare diseases
of genetic origin
An average of 4 to 5 years of diagnostic errancy
Rare diseases can hide behind fairly common symptoms. This can lead to misdiagnosis and delays in care.
A lack of effective treatment
Rare diseases can hide behind fairly common symptoms. This can lead to misdiagnosis and delays in care. People affected by these diseases all face similar difficulties in their care. Access to quality care, overall social and medical management of the disease, coordination of hospital and outpatient care, autonomy and social, professional and civic integration are also problems.
People suffering from these diseases all encounter similar difficulties in their care. Access to quality care, overall social and medical management of the disease, coordination of hospital and outpatient care, autonomy and social, professional and civic integration are also problems.
The Rare Diseases Platform which brings together 6 organizations to advance the fight against rare diseases: AFM Telethon, Alliance Maladies Rares, Foundation For Rare Diseases, Orphanet, Maldies Rares Info Service and Eurordis.
- Rare Diseases Alliance
- Foundation For Rare Diseases
- Rare Diseases Info Service
- National Agency for the Safety of Medicines and Health Products
- Regional Health Agency
- High Authority for Health
- Ministry of Solidarity and Health
European Commission - DG Health
- Brochure (FR) Understanding EU policies - Public Health
- CHAFEA - European Executive Agency in charge of the Health Program
- EU Health Program
The websites of European research infrastructures
- BBMRI (Biobanking and Biomolecular Resources Research Infrastructure)
- EATRIS (European infrastructure for translational medicine)
- ECRIN - European Clinical Research Infrastructure Network
- ERANET e-Rare
European Commission - DG Research & Innovation - H2020 - ERC
- Brochure (FR) Understanding EU policies - Research and Innovation
DG Research & Innovation - Health
- ERC -European Research Council
- European Commission - DG Research and Innovation
- Horizon 2020 Participant Portal
The 23 rare disease networks
- AnDDI-Rares - Developmental abnormalities and intellectual disability of rare causes
- BRAIN-TEAM - Rare diseases with motor or cognitive expression of the central nervous system
- CARDIOGEN - Hereditary heart diseases
- ScienceChallenge - Rare developmental brain diseases and intellectual disability
- FAI²R - Rare systemic autoimmune and auto-inflammatory diseases
- FILFOIE - Rare liver diseases in children and adults
- FILNEMUS - Neuromuscular diseases
- FILSLAN - Amyotrophic lateral scelosis
- FIMARAD - Rare diseases in dermatology
- FIMATHO - Abdomino-thoracic malformations
- FIRENDO - Rare endocrine diseases
- G2M - Hereditary metabolic diseases
- MARIH - Rare immuno-hematological diseases
- MCGRE - Rare constitutional diseases of the red blood cell and erythropoiesis
- MHemo - Constitutional bleeding diseases
- Muco/CFTR - Muscoviscidosis and CFTR-related disorders
- NeuroSphinx - Neurological and sphincter complications of rare pelvic and spinal cord malformations
- ORKID - Rare kidney diseases
- OSCAR - Rare diseases of bone, calcium and cartilage
- RespiFIL - Rare respiratory diseases
- SENSGENE - Rare sensory diseases
- TETECOU - Rare diseases of the head, neck and teeth