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.
Editor-in-Chief
- Ségolène Aymé, Hopital Broussais, INSERM
Society Affiliations
The official journal of Orphanet, the European portal for rare diseases and orphan drugs.Articles
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Research
Orphanet Journal of Rare Diseases 2012, 7:10 (26 January 2012)Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
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Research
Orphanet Journal of Rare Diseases 2012, 7:9 (25 January 2012)Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
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Research
Orphanet Journal of Rare Diseases 2012, 7:8 (25 January 2012)Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
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Research
Orphanet Journal of Rare Diseases 2012, 7:7 (23 January 2012)Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
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Research
Orphanet Journal of Rare Diseases 2012, 7:6 (22 January 2012)Clinical expression of Menkes disease in females with normal karyotype
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Research
Orphanet Journal of Rare Diseases 2012, 7:5 (17 January 2012)ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure
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Research
Orphanet Journal of Rare Diseases 2012, 7:4 (11 January 2012)Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
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Review
Orphanet Journal of Rare Diseases 2012, 7:3 (4 January 2012)Gastric lactobezoar - a rare disorder?
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Review
Orphanet Journal of Rare Diseases 2012, 7:2 (4 January 2012)Chromosome 15q24 microdeletion syndrome
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About Orphanet
Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services:
- An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications.
- An encyclopedia of rare diseases in six languages.
- An inventory of orphan drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorization.
- A directory of specialised services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organizations, in the field of rare diseases, in each of the countries in Orphanet's network.
- An assistance-to-diagnosis tool allowing users to search by signs and symptoms.
- An encyclopedia of recommendations and guidelines for emergency medical care.
- A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
- A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
- Free access to Orphanet data for research purpose is available at www.orphadata.org.
About the European Union Committee of Experts on Rare Diseases
The European Union Committee of Experts on Rare Diseases (EUCERD) was formally established via the European Commission Decision of 30 November 2009 (2009/872/EC). The EUCERD fosters exchanges of relevant experience, policies and practices between stake holders. Specifically, the EUCERD is charged with the following responsibilities:
- assisting the Commission in the monitoring, evaluating and disseminating the results of measures taken at Community and national level in the field of rare diseases;
- contributing to the implementation of Community actions in the field, in particular by analyzing the results and suggesting improvements to the measures taken;
- contributing to the preparation of Commission reports on the implementation of the Commission Communication and the Council Recommendation;
- delivering opinions, recommendations or reports to the Commission either at the latter's request or on its own initiative;
- assisting the Commission in international cooperation on matters relating to rare diseases;
- assisting the Commission in drawing up guidelines, recommendations and any other action defined in the Commission Communication and in the Council Recommendation;
- providing an annual report of its activities to the Commission.
All documents about the activities of this committee are accessible at www.eucerd.eu.
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