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

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.

Featured supplement: French recommendations for the management of Autoimmune and Autoinflammatory Diseases

New Content ItemWe are proud to publish an ongoing supplement on French recommendations for the management of Autoimmune and Autoinflammatory Diseases. Currently, you can find guidelines for systemic necrotizing vasculitides, Behçet’s disease, systemic sclerosis, and Takayasu’s arteritis, and check back here for more. We thank The French Rare Diseases Healthcare Network: auto-immune and auto-inflammatory rare diseases (FAI2R) for funding. 

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 Monday, February 22nd, 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.

"Student Voice" Winner: "Unmasked"

We are proud to publish the winner of Findacure/ M4RD's "Student Voice” contest, a moving reflection from Barts and The London School of Medicine and Dentistry student Catriona Chaplin, on three patients and their families living with mastocytosis. Catriona discusses the difficulties faced and how these challenges can resonate more widely with other patient groups in the community. Read this great article, here.

Rare Disease Day blog: CDER’s Progress in Rare Diseases

This piece is authored by the Rare Diseases Team within the FDA's Division of Rare Diseases and Medical Genetics (Center for Drug Evaluation and Research), taking us through its productive efforts in approving new and/or repurposed treatments, for patients with rare diseases. Click here to read this blog.

Rare Disease Day blog: Rare Diseases – a Research Priority for Everyone

In this Rare Disease Day blog, Dr. Anne R. Pariser (Director of the Office of Rare Diseases Research, at the NIH's National Center for Advancing Translational Sciences) discusses the milestones reached and benefits achieved for patients of both rare and common diseases, via rare disease research. This great piece is now available for all to read, here!

Rare Disease Day blog: Rare Disease Day Quiz 2021

The 2021 editon of our annual Rare Disease Day quiz, which aims to see how much you may already know about rare diseases and teach you some facts along the way. Along with research taken from content published in our journal over the last year, be prepared to see how often rare diseases show up in popular culture. Be sure to share your score @OJRareDiseases, using #RareDiseaseDay.

Rare Disease Day blog: Exercise Capacity Restored by Yoga in LAM

We hope you will take great interest in a blog by one of our journal's Section Editors, Kai-Feng Xu (Peking Union Medical College Hospital, China), an inspiring account of yoga effectively improving the exercise capacity of patients with lymphangioleiomyomatosis (LAM). Please read this interesting piece, here.

Rare Disease Day blog: What challenges have presented in a global pandemic?

Our content continues with another finalist from Findacure & Medics4RareDiseases’ "Student Voice” contest. Sanjana Ashok, a student at St George’s, University of London discusses COVID-19’s negative effects on rare disease research and patient care. You can read this revelatory and important blog, here.

Rare Disease Day blog: What is Leigh Syndrome?

Our first Rare Disease Day blog from Findacure and Medics4RareDiseases’ "Student Voice” contest, was a finalist. University of Edinburgh student Molly Bowden uses her experiences with a Leigh Syndrome patient, to discuss some of the changes which need to be made in patients’ care in order to improve lives. Please read this piece on our blog network, here!

Rare Disease Day blog: Journey of a rare disease patient

Our final blog from the finalists of Findacure and Medics4RareDiseases’ "Student Voice” contest, comes from Caitlyn Taylor, a student from the University of Edinburgh. She tells us of her time with an Addison’s disease patient, and how she learned of the importance for doctors to be aware of the rare conditions they do not expect to encounter in their careers. The journey begins 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.

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!

New supplement: ECRD 2020!

New Content Item (2)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.


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

    Content type: Review

  2. Authors: Renzo Galanello and Raffaella Origa

    Content type: Review


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

Featured web resource: Cushing’s Hub

New Content ItemWe are excited to announce the launch of Cushing’s Hub, a unique online resource that collates and expertly curates the latest, clinically relevant information on Cushing’s syndrome. Cushing’s Hub identifies the best, most recently published literature about Cushing’s syndrome, presenting it in easy-to-digest formats, including editorials, news highlights, interactive case studies, animated abstracts, and succinct publication highlights. Overseen by an esteemed, independent Editorial Board, Cushing’s Hub is brought to you by Springer Healthcare and is funded for educational purposes by HRA Pharma Rare Diseases.


FOP: Recognition, Treatment and Hope- this live webinar, led by Dr. Robert Pignolo, will take place on Thursday, 24 June 2021 | 12:00 - 13:30 EDT / 18:00 - 19:30 CEST. The 90-minute case-based event will cover important topics such as:

  • New presentation of fibrodysplasia ossificans progressiva (FOP)
  • Flare-up management
  • Common complications of FOP
  • Considerations for vaccination / immunizations

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: 

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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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