Reference centers
In the context of the "National Plan for Rare Diseases 2005-2008,” the Ministry of Health identified the well-known international centers of expertise, labelled as reference centers for a rare disease or for a group of rare diseases.
The contribution of these medical centers for rare diseases is essential to the improvement of the quality of life for patients and their close ones. Their mission is, in fact, to facilitate diagnosis and to define the therapeutic and psychological course of treatment as well as the social support needed by the patients and their families.
18 reference centers for rare genetic children’s diseases have been accredited at the Necker-Enfants malades Hospital thanks to the excellence of the researchers and practitioners present on site.
As such, these 18 centers have received annual financing in the amount of 4.3 million Euros to coordinate their activity nationwide and, more often, worldwide.
Reference Centers for Rare Diseases at Necker Children’s Hospital :
Of the hundred existing nationwide reference centers for rare diseases, 18 have been created on the site of Necker-Enfants malades Hospital and are associated with the
Imagine Foundation :
Genetic Diseases of a cutaneous nature
Professor C. Bodemer
Rare digestives intestinal diseases
Professor O. Goulet
Hereditary diseases of the metabolism
Professor P. de Lonlay
Mitochondrial Diseases CARAMMEL
Professor A. Munnich
Rare Epilepsies
Professor O. Dulac
Hereditary child and adult renal diseases
Professor C. Antignac et Professeur R. Salomon
Hereditary immunitary deficits
Professor A. Fischer
Juveniles arthritis
Professor P. Quartier
Complex cardiac malformations
Professor D. Bonnet
Rare diseases in ophthalmology
Professor J.-L. Dufier
Mastocytosis
Professor O. Hermine
Cranio-facial Dysostosis
Professor C . Sainte-Rose
Major sickle-cell syndromes
Professor M. de Montalembert
Ondine’s Syndrome
J. Amiel
Constitutional bone diseases
Professor M. Le Merrer
Neuromuscular Diseases
I. Desguerre
Competencies relating to Cystic fibrosis
G. Lenoir
Embryonic developmental anomalies of genetic origin
Professor S. Lyonnet
Non-syndromic fixed mental deficiencies of genetic origin
Ano-rectal and pelviennes deformations