Rare Disease Day
Each year, the last day in February is designated as Rare Disease Day around the world. It was started in 2008 to raise awareness about rare diseases, the research being conducted to treat them, and the patients who live with them. Please come back on Tuesday, February 25th, when we will start presenting our annual Rare Disease Day content, featuring a new article, moving blogs, and a rare disease quiz to test your knowledge on these disorders.
Rare Disease Day blog: Improving Rare Disease Recognition
Our first Rare Disease Day blog this year, is one of the runners-up from Findacure and Medics4RareDiseases’ "Student Voice” contest. University of Leicester student Muhummed Shaikh makes a compelling argument for making some changes to how medical students are educated.
Rare Disease Day blog: Dual Deprivation for Rare Disease
Our third blog from the finalists of Findacure and Medics4RareDiseases’ "Student Voice” contest, comes from St Georges, University of London student Sandy Ayoub, who expounds upon how rare diseases can bring a psychological burden (in addition to a physical one), for both patient and caregiver.
Rare Disease Day blog: No Country for Healthcare Equity
University of Western Australia student Anneliese Ng describes the different areas of disparity in healthcare among Indigenous and non-Indigenous people in Australia, in another finalist entry from Findacure and Medics4RareDiseases’ "Student Voice” contest.
Rare Disease Day blog: Open for Rare/ Rare Disease Cell Map
On Friday, February 28th, we are proud to present a piece from Benoit Coulombe and Marie-Soleil Gauthier of the Montréal Clinical Research Institute in Montréal, Canada, about the “Rare Disease Cell Map” and their Open for Rare website.
Rare Disease Day: Findacure winner
On Friday, February 28th, we are proud to publish the winner of the 2019 edition of Findacure and Medics4RareDiseases’ “Student Voice” essay contest! Cambridge University's Anna-Lucia Koerling presents a moving account of an experience with a patient living with Neurofibromatosis type 1, what it revealed about physical and mental aspects of rare disease, and how it showed Anna-Lucia what kind of doctor she aspires to be. We thank Anna-Lucia, Findacure, and Medics4RareDiseases for their moving contribution to the journal.
Our annual Rare Disease Day quiz has returned!
We are excited to say our annual Rare Disease Day Quiz will return to the BMC "On Medicine" blog on Friday, February 28th. It features questions on different disorders, treatments, and rare disorders in popular culture. Now is a great time to test your knowledge of rare diseases and more importantly, learn something new about them. We look forward to hearing how you performed this year!
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.
Editor-in-Chief
Francesc Palau, Sant Joan de Déu Children's Hospital and CIBERER, Spain
OJRD reviews
Over the last decade-plus, Orphanet Journal of Rare Diseases has served as a leading home for the latest reviews on rare diseases and orphan drugs. This is very important work as often, reviews will be some of the best sources of information about rare diseases and their evolution. Please take a look at some of our most recent work in this essential vein.
Read here
Articles
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Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
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A civil society view of rare disease public policy in six Latin American countries
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Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
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Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
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
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.
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.
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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
95 days to first decision for reviewed manuscripts only
72 days to first decision for all manuscripts
147 days from submission to acceptance
23 days from acceptance to publication
Citation Impact
3.687 - 2-year Impact Factor
4.299 - 5-year Impact Factor
1.735 - Source Normalized Impact per Paper (SNIP)
1.589 - SCImago Journal Rank (SJR)
Usage
1,400,603 downloads
1029 Altmetric mentions
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