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Rare Disease Day 2014

Edited by: Dr Segolene Ayme

28 February 2014 marks the seventh international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from more than 70 countries and regions worldwide are planning awareness-raising activities around the slogan “Join Together for Better Care”.

This article collection includes two Editorials that describe the different ongoing efforts in Europe and the USA, respectively, to improve the care available for people suffering with rare diseases. This series also highlights a selection of articles published recently in Orphanet Journal of Rare Diseases that discuss particularly prevalent issues in the field of rare diseases.

Collection published: 28 February 2014

  1. Research

    Use of biomarkers in the context of orphan medicines designation in the European Union

    The use of biomarkers within the procedures of the Committee of Orphan Medicinal Products (COMP) of the European Medicines Agency (EMA) is discussed herein. The applications for Orphan Medicinal Product design...

    Stelios Tsigkos, Jordi Llinares, Segundo Mariz, Stiina Aarum, Laura Fregonese, Bozenna Dembowska-Baginska, Rembert Elbers, Pauline Evers, Tatiana Foltanova, Andre Lhoir, Ana Corrêa-Nunes, Daniel O’Connor, Albertha Voordouw, Kerstin Westermark and Bruno Sepodes

    Orphanet Journal of Rare Diseases 2014 9:13

    Published on: 27 January 2014

  2. Research

    Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

    Malignant hyperthermia (MH) is a rare pharmacogenetic disorder which is characterized by life-threatening metabolic crises during general anesthesia. Classical triggering substances are volatile anesthetics an...

    Werner Klingler, Sebastian Heiderich, Thierry Girard, Elvira Gravino, James JA Heffron, Stephan Johannsen, Karin Jurkat-Rott, Henrik Rüffert, Frank Schuster, Marc Snoeck, Vincenzo Sorrentino, Vincenzo Tegazzin and Frank Lehmann-Horn

    Orphanet Journal of Rare Diseases 2014 9:8

    Published on: 16 January 2014

  3. Research

    Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countries

    National payers across Europe have been increasingly looking into innovative reimbursement approaches – called managed entry agreements (MEAs) – to balance the need to provide rapid access to potentially benef...

    Thomas Morel, Francis Arickx, Gustaf Befrits, Paolo Siviero, Caroline van der Meijden, Entela Xoxi and Steven Simoens

    Orphanet Journal of Rare Diseases 2013 8:198

    Published on: 24 December 2013

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