The official journal of Orphanet, the portal for rare diseases and orphan drugs.


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  1. Review


    Renzo Galanello and Raffaella Origa

    Published on: 21 May 2010

  2. Review

    A review of trisomy X (47,XXX)

    Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson

    Published on: 11 May 2010

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Review series

Living with a rare disease

Collection published: 18 February 2015

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Aims and scope

Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.


Ségolène Aymé, Hopital Broussais, INSERM

About Orphanet

Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services:

About the EC Expert Group on Rare Diseases

The European Commission has supported the development and implementation of European public health policy since 2004 through three successive multi-stakeholder forums: the Rare Disease Task Force (2004-2009), the European Union Committee of Experts on Rare Diseases (EUCERD, 2009-2013), and the Commission Expert Group on Rare Diseases (2014).

During its mandate, the EUCERD published a number of recommendations and reports, as well as an annual report on the State of the Art of Rare Disease Activities in Europe, providing detailed information on the activities in the field at both European and Member State level. A review of the achievements of the EUCERD was published in OJRD to mark Rare Disease Day 2014.

The Commission Expert Group on Rare Diseases, established via Commission Decision of 30 July 2013 (2013/C 219/04), continues the work of the EUCERD. The Expert Group brings together stakeholders in the field of rare diseases and representatives of the EU Member States to:

  • Assist the European Commission with the preparation and implementation of community activities in the field of rare diseases, including drawing up guidelines and recommendations;
  • Foster exchanges of experience, policies and practices between specialised bodies at member state level, European authorities in the fields of research and public health, and stakeholder groups.

The reports and recommendations issued by the Expert Group are available online.