The European Rare Diseases Therapeutic Initiative

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منابع مشابه

The European Rare Diseases Therapeutic Initiative

O ver 5,000 rare diseases have been described, the vast majority being of genetic origin. Rare diseases affect a small number of individuals—less than one person per 2,000, according to the European defi nition, or less than 200,000 individuals in the United States, according to the US defi nition [1]. The few available epidemiological data are too limited to give fi rm details on the number of...

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Clinical trial designs for rare diseases: Studies developed and discussed by the International Rare Cancers Initiative

BACKGROUND The past three decades have seen rapid improvements in the diagnosis and treatment of most cancers and the most important contributor has been research. Progress in rare cancers has been slower, not least because of the challenges of undertaking research. SETTINGS The International Rare Cancers Initiative (IRCI) is a partnership which aims to stimulate and facilitate the developmen...

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European solidarity is changing the face of rare diseases.

Almost 1 year ago, a BBC fi lm about a teenager called Louisa Ball briefl y captured the imagination of the British public. Called The Real Sleeping Beauty, the fi lm told the story of Louisa and her family as they dealt with the consequences of Louisa’s Kleine-Levin syndrome: a vanishingly rare neurological disorder that causes prolonged episodes of sleep, lasting, in most cases, between 1 and...

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European collaboration in research into rare diseases: experience of the European Neuromuscular Centre.

An understanding of the possible causes, prevention and treatment of rare, so-called 'orphan disease' requires collaboration in research between different centres with the sharing of information. In the case of neuromuscular disorders (such as muscular dystrophies or hereditary neuropathies) this has been achieved through European collaborative research encouraged and facilitated by the Europea...

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Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks.

Affiliations: Faculté de Médecine, Université Paris-Sud, Université Paris-Saclay, Le Kremlin Bicêtre, France. Service de Pneumologie, Centre de Référence de l’Hypertension Pulmonaire, Hôpital Bicêtre (Assistance Publique Hôpitaux de Paris), Le Kremlin-Bicêtre, France. Inserm UMR-S 999, Hôpital Marie Lannelongue, Le Plessis Robinson, France. Frankfurt Reference Center for Rare Diseases (FRZSE), ...

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ژورنال

عنوان ژورنال: PLoS Medicine

سال: 2005

ISSN: 1549-1676

DOI: 10.1371/journal.pmed.0020243