Featured Series: New Therapeutic Approaches for Rare Diseases
The 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
Within 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
We 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
Our 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 Clinical 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)
Launch of Cushing’s Hub Competition 2023!
The 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.
We 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
MedTech Innovation & Rare Diseases
Living with a rare disease
Collection published: 18 February 2015
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
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.
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:
- An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications, cross-referenced with other terminologies.
- Annotations with associated genes, phenotypes and epidemiological data.
- An encyclopedia of rare diseases in nine languages.
- An inventory of orphan drugs at all stages of development, from orphan designation to European market authorization.
- A directory of specialised services, providing information on expert clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in the field of rare diseases, in each of the countries in Orphanet's network.
- An encyclopedia of recommendations and guidelines for emergency medical care.
- A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
- A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
- Free access to Orphanet data for research purposes via www.orphadata.com.
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)
27 days submission to first editorial decision for all manuscripts (Median)
140 days submission to accept (Median)
7,653 Altmetric mentions