Reference centers for rare diseases

These centers, built around highly specialized teams, improve caring for patients and offer multidisciplinary innovative care in collaboration with all medical professionals involved. The reference centers also allow a unique dialogue with patients associations and families and have a important role to play in the development of clinical trials.

Many reference centers for rares diseases in the Necker-Enfants Malades hospital involved in genetic diseases are included in the Imagine’s scope.


Marianne de Montalembert

Major sickle cell syndromes


Michel Polak

Rare gynecological pathologies


Dominique Brémond-Gignac

Rare ophtalmological diseases



Françoise Denoyelle

Rare ENT malformations



Michel Zérah

Rares Vertebral and spinal malformations



Damien Bonnet

Complex congenital Heart Defects


Arnaud Picard

Cranial and facial malformations


Annie Harroche

Pediatric hemophilia


Nadia Bahi-Buisson

DI - RETT center


Marlène Rio

Intellectual disabilities of rare causes



Michel Zérah

Craniosynostosis and craniofacial malformations


Jeanne Amiel

Developmental abnormalities and malformation syndromes in the Ile-de-France region



alain fischer

Alain Fischer

Hereditary immunodeficiencies


remi salomon

Rémi Salomon

Hereditary kidney diseases of the child and the adult

véronique abadie

Véronique Abadie

Pierre Robin sequence

christine bodemer

Christine Bodemer

Genetic diseases with cutaneous expression

pierre quartier dit maire

Pierre Quartier dit Maire

Juvenile arthritis

Sabine Sarnacki

Sabine Sarnacki

Rare anorectal and pelvic anomalies

Sandrine Marlin

Genetic deafness

Arnold Munnich

Arnold Munnich

Mitochondrial diseases

Rima Nabbout

Rare epilepsies

Olivier Goulet

Olivier Goulet

Rare digestive tract diseases

Olivier Hermine

Olivier Hermine


Valérie Cormier-Daire

Valérie Cormier-Daire

Constitutional bone diseases

Pascale de Lonlay

Pascale de Lonlay

Hereditary metabolic diseases