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

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.

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.

PNDS Recommendations

New Content ItemWe are proud to present the first of a series of recommendations from the PNDS on rare Autoimmune and Autoinflammatory Disease. This first set is about the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides). Read more here!

New supplement: ECRD 2020!

New Content Item (2)We are proud to publish our latest supplement, the meeting abstracts from the 10th European Conference on Rare Diseases & Orphan Products (ECRD 2020). This publication has been funded with the kind support of INSERM. You can find the supplement, as well as previously published editions, here.


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


  1. Authors: Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau…

    Content type: Research

  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


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


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


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

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

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.


New Horizons in the Management of ADA-SCID is a free independent online resource, developed by Springer Healthcare IME for healthcare professionals who are presented with ADA-SCID to understand the biology of the disease, know how to screen for it, and be aware of the current and emerging treatments. The resource is supported by an educational grant from Orchard Therapeutics and led by an Editorial Board comprising Andrew Gennery, Fabio Candotti and Robbert Bredius. It offers:

  • Summaries of the latest published articles
  • Interviews with leading experts
  • Webcast on clinical practice
  • Case studies to learn and test knowledge on extra immunological aspects, newborn screening methods and clinical presentation
  • Specialist directory of ADA-SCID specialist centres around the world
  • Coming soon:
    • Video interviews providing insight from the patient/care and nurse
    • Panel discussion webcast on gene therapy and best practice

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 which do not present clinical or pathological findings that can provide information about the mechanisms of a disease. Case reports which just present phenotype information, should not be considered.

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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