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

Featured Series: New Therapeutic Approaches for Rare Diseases

New Content ItemThe advent of genetic therapies is set to make rare diseases a major area of innovation, with single gene defects being the ideal targets for the development of advanced medicinal therapy products, such as gene therapy and other innovative genetic therapies (e.g. mRNA therapy and antisense oligonucleotide therapy). We set out to explore how these technologies are being applied and how this might change our practice in the future. To achieve this overarching goal we invite those with a particular individual, scientific and clinical interest in this highly dynamic field to submit original articles and reviews. Read more about the scope here.

Featured series: Innovative Methodologies for Rare Diseases Clinical Trials

New Content ItemWithin the EJP RD (European Joint Programme on Rare Diseases), Work Package (WP) 20, "Accelerating the validation, use and development of innovative methodologies tailored for clinical trials in RDs", recognizes and addresses methodological challenges in clinical trials for rare diseases. These challenges include gaps in knowledge of best practices and innovative methodologies. Several actions have been implemented to overcome these gaps. Find out more about the scope of the series here.

Featured series: Diagnosis of rare diseases – strategies and structures

We are pleased to announce a new thematic series, edited by Francesc Palau (Hospital Sant Joan de Déu Barcelona and CIBERER, Spain) and Holm Graeßner (University Hospital Tübingen, Germany). This new series will explore the strategies and solutions which have been developed, tested, validated and/or deployed, in order to improve diagnosis of rare disease patients. You can find more information about the scope of the series here.

Featured series: Medical technologies for rare diseases

New Content ItemWe are pleased to announce a new thematic series, guest edited by Anneliene Jonker (University of Twente, The Netherlands) and Marc Dooms (University Hospitals Leuven, Belgium).

Orphan devices constitute a very diverse group of products, reflecting the broad field of rare disease. Many orphan devices provide essential functions for patients with rare diseases, their carers, and the healthcare professionals using them. Nevertheless, there are very few medical devices that are specifically developed for rare diseases, while many patients and carers express a substantial unmet need for new medical devices for their conditions. This new series will explore the questions which need to be answered, in order to raise the profile of this field, helping current and future rare disease patients worldwide. Find out more about the scope here.

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.

Cushing’s Hub Webinar Series 2023 – Registration Now Open!

The Cushing’s Hub Editorial Board is delighted to announce the second event in the Cushing’s Hub Webinar Series – Explore Real-World Clinical Scenarios in Mild Autonomous Cortisol Secretion (MACS) on Tuesday 24 October at 16.00–17.00 Central European Time.

Chaired by Dr Susan M. Webb, Barcelona, Spain, watch panellists Assoc. Prof. Iacopo Chiodini, Milan, Italy, and Dr Irina Bancos, Rochester, MN, USA discuss, using practical case examples, the challenges surrounding the clinical management of low-grade excessive cortisol secretion and take questions from the audience.

An application has been made to the UEMS EACCME® for CME accreditation of this event.

Click here to register.

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!


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


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

  2. Authors: Renzo Galanello and Raffaella Origa


Thematic series
MedTech Innovation & Rare Diseases


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


In collaboration with Dr. Robert Pignolo and an international faculty of experts, Springer healthcare IME has developed an independent educational program entitled, FOP: Recognition, Treatment and Hope. Highlighting a rare disease that is too often under-diagnosed or misdiagnosed, this free-to-access program aims to raise awareness and highlight the advances being made which have the potential to change the outlook for people with fibrodysplasia ossificans progressiva (FOP). Two resources are CME-accredited, an interactive case-based webcast and eLearning modules, both of which cover important topics within the diagnosis and management of FOP. Also included is the opportunity to test your knowledge through an image-based clinical diagnosis quiz, submit a case to our panel of experts for review, keep up-to-date on the latest news and find the FOP specialist center nearest to your location.

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

Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems.

Orphanet makes available: 

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Affiliated with

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

Annual Journal Metrics

  • 2022 Citation Impact
    3.7 - 2-year Impact Factor
    4.4 - 5-year Impact Factor
    1.702 - SNIP (Source Normalized Impact per Paper)
    1.120 - SJR (SCImago Journal Rank)

    2022 Speed
    15 days submission to first editorial decision for all manuscripts (Median)
    140 days submission to accept (Median)

    2022 Usage 
    7,653 Altmetric mentions