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

Rare Disease Day

Since 2008, the last day of February has been dedicated to raising awareness about rare diseases. This global campaign is a precious opportunity for everyone to contribute to raising attention to 300 million rare disease patients and support initiatives around the world aiming to improve their lives. To mark this day, we will also present our annual Rare Disease Day content, featuring our newly published blog posts on this topic.

Student Voice Winner 2022: Diagnosing Rare Diseases and Mental Well-being: A Family’s Story

The 2022 winning essay of the Beacon and Medics4RareDiseases’ Student Voice Competition presents the stories of two sisters whose diagnostic journeys diverged then converged, reflecting on the impact of these experiences on mental well-being and what we can learn going forward. The author of this insightful essay is Zheqing Zhang, currently third-year medical student at the University of Oxford. We are proud to publish Zheqing’s article in Orphanet Journal of Rare Diseases (coming soon). Read her blog post here

Rare Disease Day blog- The ‘diagnostic odyssey’ – a unique and unpredictable journey towards hope

Chloe Yallop, a final year Genetics student at The University of Manchester, is one of the finalists of the 2022 Beacon and Medics4RareDiseases’ Student Voice Competition. In her blog post, Chloe compares diagnostic journeys of two mothers, of daughters affected by a rare disease, with a focus on the Genetic Alliance’s good diagnosis requirements, and the effects of these experiences on mental health. Read this insightful post here.

Rare Disease Day blog- One in a Million Disease with a Million Dollar cure

Fiza Javed, 3rd year medical student at Queen’s University, Canada and one of the finalists of the Beacon and Medics4RareDiseases’ Student Voice Competition, writes about Familial chylomicronemia syndrome, focusing on the Limited Access to Treatment and patient experiences “oceans apart”.   Read here this interesting blog post.

Rare Disease Day blog- Behçet's Disease: Diverse Manifestations in Both Brain and Body

Another finalist of the Beacon and Medics4RareDiseases’ Student Voice Competition is Olivia Noone, current healthcare worker and a Bachelor of Science student in Nursing (BSN) degree through the University of Victoria in Canada. In her blog post, Olivia tells us about the reality of living with Behçet's Disease through two patient stories.

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, guest edited by 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 – Cushing’s Hub e-Learning modules awarded EACCME®accreditation

The Cushing’s Hub editorial board is delighted to announce that the European Accreditation Council for Continuing Medical Education (EACCME®) has approved the latest Interactive Clinical Cases for CME accreditation. Each e-Learning Module takes approximately 20 minutes to undertake with successful completion of all three Interactive Clinical Cases leading to the award of one EACCME® credit (or American Medical Association (AMA) equivalent).

The Interactive CCushing’s Hub announces release of European Accreditation Council for Continuing Medical Educationlinical Cases are fully illustrated, accompanied by a range of multiple-choice questions, and linked to PubMed. Topics include Screening for Cushing’s syndrome; The Differential Diagnosis of ACTH-Dependent Cushing’s Syndrome; and Severe Hypokalaemia and Excessive Cortisol Secreting Cushing’s Disease.

Click here for more information EACCME Accredited Content - Cushing's Hub (

Launch of Cushing’s Hub Competition 2023!

New Content ItemThe Cushing’s Hub Editorial Board is pleased to announce the latest Cushing’s Hub Competition in which clinicians are invited to submit clinical scenarios for inclusion on Cushing’s Hub as part of the highly successful Interactive Clinical Case series.
The winner will work with the Springer Healthcare team to develop their entry into a pedagogically enhanced, interactive educational module, which will be promoted worldwide. Entries can cover any clinically relevant aspect of Cushing’s syndrome although submissions that focus on unusual presentations of hypercortisolaemia and long-term disease outcomes (including health-related quality of life), are particularly encouraged. 
Closing date 30 June 2023.
Click here for more information.

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

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