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 European Union Committee of Experts on Rare Diseases


The European Union Committee of Experts on Rare Diseases (EUCERD), established via the European Commission Decision of 30 November 2009 (2009/872/EC), brings together stakeholders in the field of rare diseases and representatives of the EU Member States (MS) 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 MS level, European authorities in the field of research and public health, and stakeholder groups.

Since its first meeting in December 2010, the EUCERD has published a number of reports and recommendations, all of which are available on the EUCERD website: www.eucerd.eu.

In particular, the EUCERD issues an annual report on the State of the Art of Rare Disease Activities in Europe. This five-volume report provides detailed information on the activities in the field at both European and Member State level, covering a wide range of aspects such as centres of expertise; registries; genetic testing resources and activities; patient organisation activities; information resources; guidelines and recommendations; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan medicinal product incentives, availability, reimbursement and pricing policies; and specialised social services.

All five volumes of this report are available freely for download on the EUCERD website.

Latest supplements

Volume 9 Suppl 1 (11 November 2014)

7th European Conference on Rare Diseases and Orphan Products (ERCD 2014)

Meeting abstracts
Berlin, Germany. 8-10 May 2014

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ISSN: 1750-1172