Orphanet Journal of Rare Diseases is an open access, online 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.


  • Ségolène Aymé, Hopital Broussais, INSERM

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


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Editorial Board announcement

Since its establishment in 2006, the audience of Orphanet Journal of Rare Diseases has grown fast. This year has seen the recruitment of a new team of Section Editors, who are all leading clinicians in specific fields of rare diseases, supported by an expert Editorial Board. This new editorial structure has streamlined the peer review process in order to provide excellent service to our authors.

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.

Latest supplements

Volume 10 Suppl 2 (11 November 2015)

Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

Meeting abstracts
Marseille, France. 15-16 January 2015

Volume 10 Suppl 1 (2 November 2015)

First European Congress on Hereditary ATTR amyloidosis

Meeting abstracts
Paris, France. 2-3 November 2015

View all supplements

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ISSN: 1750-1172