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

Featured series: Undiagnosed rare diseases

New Content ItemOur new thematic series, guest edited by David Adams, delves into the challenges and opportunities which exist for patients living with undiagnosed rare diseases. We are looking to publish material which speaks to the importance of a diagnosis, of utilizing individual approaches in treating patients, of functional studies, and the best ways to share information. For more information about the series (including submission info), please click here.

Announcing the launch of In Review

Orphanet Journal of Rare Diseases, in partnership with Research Square, is now offering In Review. Authors choosing this free optional service will be able to:

  • Share their work with fellow researchers to read, comment on, and cite even before publication
  • Showcase their work to funders and others with a citable DOI while it is still under review
  • Track their manuscript - including seeing when reviewers are invited, and when reports are received 

See what the Orphanet Journal of Rare Diseases In Review platform looks like

Rare Disease Day: 2019's Findacure winner

This Rare Disease Day, we are proud to publish the winner of the 2019 edition of Findacure's “Student Voice” essay contest! Medical student Logan Williams provides insight into how implicit bias towards biomedicine can impact the care received by patients with a rare illness (using the example of Worster-Drought syndrome). We thank Logan and Findacure for their moving contribution to the journal.

Editor-in-Chief

Francesc Palau, Sant Joan de Déu Children's Hospital and CIBERER, Spain 

OJRD reviews

Over the last decade-plus, Orphanet Journal of Rare Diseases has served as a leading home for the latest reviews on rare diseases and orphan drugs. This is very important work as often, reviews will be some of the best sources of information about rare diseases and their evolution. Please take a look at some of our most recent work in this essential vein.

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Articles

  1. Authors: Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson

    Content type: Review

  2. Authors: Renzo Galanello and Raffaella Origa

    Content type: Review

2015

Review series
Living with a rare disease
Collection published: 18 February 2015

2014

Thematic series
Rare Disease Day 2014
Collection published: 28 February 2014

2013

Cross journal collection
Rare Diseases Day 2013
Collection published: 28 February 2013

Featured series: Spinraza

One of the journals in our extended family, Gene Therapy, is featuring a special issue this month, entitled "Spinraza and advanced therapies: a stakeholder special". This issue is a vital resource for all stakeholders in the development of advanced therapies such as Spinraza, which is used to treat spinal muscular atrophy.

ADA-SCID

New Horizons in the Management of ADA-SCID, Springer Healthcare IME’s independent educational resource, is pleased to share its most recent updates: a specialist directory showing your nearest ADA-SCID treatment centre; an expert-to-expert interview with Eyal Grunebaum and Michael Hershfield about advances in the management of the disorder; and summaries of the latest published ADA-SCID research. All content is approved by an international editorial board of experts for an audience of paediatric/adult immunologists, gene and cell therapy clinicians, transplant specialists, paediatricians and haematologists, and is designed to educate healthcare professionals who are presented with ADA-SCID patients. This educational activity is supported by an educational grant from Orchard Therapeutics.​​​​​​​

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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.

About Orphanet



The Orphanet Knowledgebase is an organized and dynamic collection of information and data on rare diseases and orphan drugs. Added-value data from multiple sources are archived, reviewed, manually annotated, and integrated with other data.

Orphanet makes available: 

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  • Orphanet Journal of Rare Diseases is the official journal of Orphanet, the portal for rare diseases and orphan drugs.

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