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.
PNDS Recommendations
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!
New supplement: ECRD 2020!
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.
Editor-in-Chief
Francesc Palau, Sant Joan de Déu Children's Hospital and CIBERER, Spain
Articles
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Exome sequencing in paediatric patients with movement disorders
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Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
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Neuroendocrine liver metastasis from the small intestine: Is surgery beneficial for survival?
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Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders
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
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.
ADA-SCID
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:
- 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 eight languages.
An inventory of orphan drugs at all stages of development, from orphan designation to European market authorization.
A directory of specialized services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organizations, 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.org.
Affiliated with
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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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Annual Journal Metrics
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Speed
81 days to first decision for reviewed manuscripts only
67 days to first decision for all manuscripts
150 days from submission to acceptance
25 days from acceptance to publication
Citation Impact
3.523 - 2-year Impact Factor
4.029 - 5-year Impact Factor
1.644 - Source Normalized Impact per Paper (SNIP)
1.275 - SCImago Journal Rank (SJR)
Usage
1,781,388 downloads
1,485 Altmetric mentions
