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