Skip to main content


Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

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

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

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.


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: Anna-Lucia Koerling

    Content type: Letter to the Editor

  2. Authors: Aurore Curie, Nathalie Touil, Ségolène Gaillard, Damien Galanaud, Nicolas Leboucq, Georges Deschênes, Denis Morin, Fanny Abad, Jacques Luauté, Eurielle Bodenan, Laurent Roche, Cécile Acquaviva, Christine Vianey-Saban, Pierre Cochat, François Cotton and Aurélia Bertholet-Thomas

    Content type: Research

  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

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 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: 

Latest Tweets


Affiliated with

  • Orphanet Journal of Rare Diseases is the official journal of Orphanet, the portal for rare diseases and orphan drugs.

Annual Journal Metrics