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

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 (cushingshub.com)


Coming Soon – Cushing’s Hub Webinar Series (EACCME® accreditation applied for)

New Content Item

The Cushing’s Hub Editorial Board is delighted to host its first webinar on Friday 16 December 2022 at 13.00-14.00 hours Central European Time.

Chaired by Dr Niki Karavitaki, University of Birmingham, UK, hear panellists Prof Dr Stephan Petersenn, Hamburg, Germany, Prof Antoine Tabarin, Bordeaux, France and Assoc Prof Dr Greisa Vila, Vienna, Austria, explain the challenges surrounding the clinical management of Cushing’s syndrome and take questions from the audience.

EACCME® accreditation applied for.

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!

Editor-in-Chief

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

Articles

  1. Authors: Roberta Shcolnik Szor, Fabio Fernandes, Angelina Maria Martins Lino, Leonardo Oliveira Mendonça, Fernanda Salles Seguro, Valkercyo Araujo Feitosa, Jussara Bianchi Castelli, Lecticia Barbosa Jorge, Lucas Bassolli de Oliveira Alves, Precil Diego Miranda de Menezes Neves, Evandro de Oliveira Souza, Livia Barreira Cavalcante, Denise Malheiros, Jorge Kalil, Gracia Aparecida Martinez and Vanderson Rocha

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

  2. Authors: Renzo Galanello and Raffaella Origa

2022

Thematic series
MedTech Innovation & Rare Diseases


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

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

FOP

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



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.

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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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