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Table 1 Existing networks/projects in the rare disease field supported by EU funding

From: The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

Group of diseases Networks/Projects
Rare cardiac diseases CHD - Congenital Heart Defects
Rare connective tissue and musculoskeletal diseases PRINTO - paediatric rheumatology international trials organisation
ESDN: European Skeletal Dysplasia Network
Rare hereditary metabolic disorders E-IMD - European registry and network for Intoxication type Metabolic Diseases
EUROGLYCANET CDG: Congenital Disorders of Glycosylation
Rare haematological diseases EPNET – European Porphyria Network
EN-RBD - Rare Bleeding Disorders
Paediatric Hodgkin's lymphoma Network
ENERCA - European Network for Rare and Congenital Anaemias
EUHANET - Haemophilia and the rare congenital deficiencies of other coagulation factors
Rare immunological and auto- inflammatory diseases EURO-HISTIO-NET - A reference network for Langerhans cell histiocytosis and associated syndrome
Rare cancers ExPO-r-NeT - European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment
RARECARENet - Information network on rare cancers
Rare hepatic diseases EUROWILSON: European network on Wilson disease
Rare neurological diseases NEUROPED - European Network of Reference for Rare Paediatric Neurological Diseases
LEUKOTREAT: Leukodystrophies
EUROSCA: European integrated project on spinocerebellar ataxias
E-Pilepsy - Refractory Epilepsy
Rare Neuromuscular diseases Care-NMD - Improving care for Duchenne muscular dystrophy
TREAT-NMD – Neuromuscular network
Rare skin disorders TAG - Together Against Genodermatoses
GENESKIN: European network on rare genetic skin diseases
Rare Pulmonary diseases ECORN CF – Expert Advice on Cystic Fibrosis
PAAIR - Patient Associations and Alpha1 International Registry
ENCE CF-LAM-LTX - European networks of centres of expertise for CF (Cystic Fibrosis), LAM (Lymphangioleiomyomatosis), and LTX (Lung Transplantation)
EUROCARE CF - Cystic Fibrosis
Rare malformations and developmental anomalies DYSCERNE - Rare Dysmorphic Syndromes
EUROCRAN - Craniofacial anomalies
Rare Kidney diseases EuroCYST initiative - Polycystic Kidney Diseases