Since 2021, 29 Rare Disease Reference Centers (CRMR) of Hôpital Necker-Enfants malades AP-HP are affiliated to Institut Imagine. And two CRMRs "outside the walls" of the AP-HP Cochin and HEGP hospitals have joined Imagine. They are key contacts for patient associations, and play a vital role in developing clinical trials and setting up cohorts. Without this, research could not be conducted.
The heart of care
Rare diseases include about 8,000 different pathologies and 3 million people are affected by them in France alone. They are serious, chronic and disabling diseases affecting all organs and expressing themselves in different ways. They require specialist, burdensome and long-term care.
Therefore, reference centers were created to structure the supply of health services for patients and provide optimum care on every aspect. The reference centers facilitate patient diagnosis and care, coordinate research work, improve the understanding of pathologies for patients, and are key contacts for patient associations.
31 reference centers for rare diseases affiliated with Imagine
- Pierre Robin sequence and congenital feeding and swallowing disorders - Véronique ABADIE
- Developmental abnormalities and malformation syndromes in the Ile-de-France region - Jeanne AMIEL
- Intellectual disabilities of rare causes - multiple disabilities - Nadia BAHI-BUISSON
- MAGEC - Genetic diseases with cutaneous expression - Christine BODEMER
- CARAMMEL - Mitochondrial diseases in children and adults - Jean-Paul BONNEFONT
- M3C - Complex congenital Heart Defects - Damien BONNET
- Hereditary or rare cardiomyopathies and heart rhythm disorders - Damien BONNET
- Idiopathic nephrotic syndrome - Bertrand KNEBELMANN and Olivia BOYER
- OPHTARA - Rare ophthalmological diseases - Dominique BRÉMOND-GIGNAC
- MOC - Constitutional bone diseases - Valérie CORMIER-DAIRE
- MAReP - Rare anorectal and pelvic anomalies - Célia CRETOLLE
- MAMEA - Hereditary metabolic diseases - Pascale DE LONLAY
- Major sickle cell syndromes, thalassemias and other rare diseases of the red blood cell and erythropoiesis - Marianne DE MONTALEMBERT
- MALO - Rare ENT malformations - Françoise DENOYELLE
- Neuromuscular diseases Nord/East/Ile-de-France - Isabelle DESGUERRE
- CEREDIH - Hereditary immunodeficiencies - Alain FISCHER and Nizar MALHAOUI
- Inherited cardiomyopathies and cardiac rythm disorders - Hôpital HEGP - Albert HAGEGE
- Pediatric hemophilia - Annie HARROCHE
- MARHEA - Hereditary kidney diseases of the child and the adult - Laurence HEIDET
- Mastocytosis - Olivier HERMINE
- Genetic deafness - Sandrine MARLIN
- CRéER - Rare epilepsies - Rima NABBOUT
- Clefts and facial malformations - Arnaud PICARD
- Rare gynecological pathologies - Michel POLAK
- RAISE - inflammatory rheumatism and rare systemic autoimmune diseases in children - Pierre QUARTIER DIT MAIRE
- Intellectual disabilities of rare causes - Marlène RIO
- MARDI - Rare digestive tract diseases - Frank RUEMMELE
- Thrombotic microangiopathies - Aude SERVAIS
- Cardiomyopathies of neuromuscular diseases - Hôpital Cochin - Karim WAHBI
- Rares vertebral and spinal malformations - Syril James
- Craniosynostosis and craniofacial malformations - Giovanna PATERNOSTER