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215 public initiatives (out of 285 initiatives in total)

This ERN brings together experts in rare congenital malformations and rare intellectual disability disorders. Congenital malformations affect one in 40 babies. For more common malformations, such as cleft lip, there are...

Rare connective tissue and musculoskeletal diseases (rCTDs) comprise a large number of diseases and syndromes, with a tremendous impact on patient well-being. These include hereditary conditions, and systemic autoimmune...

Congenital craniofacial anomalies include children born with underdeveloped or maldeveloped parts of their brain, skull and/or face that result in significant functional problems and psychosocial challenges. Patients req...

Rare cardiac diseases can present throughout a person’s life and are mostly genetic. These conditions are characterised by a wide range of symptoms and signs that vary not only from disease to disease but also from patie...

Rare endocrine conditions include too much, too little or inappropriate hormonal activity, hormone resistance, tumour growth in endocrine organs, or diseases with consequences for the endocrine system. The epidemiologica...

Epilepsy affects at least 6 million people in Europe. Traditional antiepileptic therapies help between 60% and 70% of those affected to remain seizure free. For patients suffering from refractory epilepsy, the clinical o...

Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. More than 900 REDs are listed in the portal for rare diseases and orphan drugs (ORPHANET). These i...

Genetic tumour risk syndromes are disorders in which inherited genetic mutations strongly predispose individuals to the development of tumours. The lifetime risk of cancer can be as high as 100%. While there is considera...

Haematological diseases involve abnormalities of blood and bone marrow cells, lymphoid organs and coagulation factors, and almost all of them are rare. They can be subdivided into six categories: rare red blood cell defe...