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

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.

Rare Disease Day: 2019's Findacure winner

This Rare Disease Day, we are proud to publish the winner of the 2019 edition of Findacure's “Student Voice” essay contest! Medical student Logan Williams provides insight into how implicit bias towards biomedicine can impact the care received by patients with a rare illness (using the example of Worster-Drought syndrome). We thank Logan and Findacure for their moving contribution to the journal.

Rare Disease Day blog: Learning from patients with rare diseases

One of the entries from Findacure’s “Student Voice” contest, this piece from BMC’s On Medicine blog demonstrates what future doctors can learn from patients with rare diseases. In this blog, a junior doctor/ student describes their experience in helping someone with X-linked agammaglobulinaemia and conveys the importance of listening to the wisdom of your patient.

Rare Disease Day blog: The patient voice needs to be heard

For our final entry from this year's Finadacure’s “Student Voice” contest, we present another example of how doctors can gain so much by trying to understand their patient’s message and concerns. We will hear a medical student take us through their experience and what they learned from their time communicating with a patient afflicted with fibrous dysplasia. 


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


  1. Authors: Renzo Galanello and Raffaella Origa

    Content type: Review

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

    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

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.


New Horizons in the Management of ADA-SCID, Springer Healthcare IME’s independent educational resource, is pleased to share its most recent updates: a specialist directory showing your nearest ADA-SCID treatment centre; an expert-to-expert interview with Eyal Grunebaum and Michael Hershfield about advances in the management of the disorder; and summaries of the latest published ADA-SCID research. All content is approved by an international editorial board of experts for an audience of paediatric/adult immunologists, gene and cell therapy clinicians, transplant specialists, paediatricians and haematologists, and is designed to educate healthcare professionals who are presented with ADA-SCID patients. This educational activity is supported by an educational grant from Orchard Therapeutics.​​​​​​​

Read here

Rare Disease Day blog: Comparing rare disease treatment by geography

Another entry from Findacure’s “Student Voice” contest, this piece opens our eyes with an example of how a rare disease patient’s location can strongly affect how their condition is treated.  Specifically, our author speaks of the differences in pre-natal diagnosis and management of harlequin ichthyosis between a developed and a developing nation.

Our annual Rare Disease Day quiz has returned!

We are excited to say our annual Rare Disease Day Quiz has returned to the BMC "On Medicine" blog! 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!

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.

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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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