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

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Rare Disease Day

Each year, the last day in February is designated as Rare Disease Day around the world, to raise awareness about rare diseases and their effect on the lives of those who live with them. Please visit our site on Wednesday, February 28th, for new content, blogs, and a rare disease quiz.

Rare Disease Day: 2018's Findacure winner

We are proud to publish the 2018 winner of Findacure’s “Student Voice” essay contest! A medical student takes the reader through a journey of how her eyes were opened to the importance of rare disease.

Rare Disease Day blog: Raising the flag for orphan diseases

One of the entries from Findacure’s “Student Voice” contest, this piece from BMC’s On Medicine blog explains how students and researchers can become more involved in the treatment of rare diseases, as well as the challenges which will await them.


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.

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  1. Content type: Review


    Authors: Renzo Galanello and Raffaella Origa

  2. Content type: Review


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

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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: interviews at ESID, summaries of the latest research, free access to full-text articles, and full editorials. Coming soon: interactive patient cases, an on-demand webinar, and more expert interviews. The portal is for Paediatric/Adult Immunologists, Gene and Cell Therapy Clinicians, Transplant Specialists, Paediatricians and Haematologists designed to educate healthcare professionals who are presented with ADA-SCID patients. This educational activity is supported by an educational grant from GlaxoSmithKline.

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Rare Disease Day quiz

Our annual Rare Disease Day Quiz has returned to the BMC "On Medicine" blog! Test your knowledge of rare diseases and most importantly, learn more about them. Feel free to share your score with us at @ojrarediseases and try last year's edition

Rare Disease Day blog: Collaboration in the face of rare diseases

Another entry from Findacure’s “Student Voice” contest, this piece from BMC’s On Medicine blog speaks to the various trials which exist in the world of rare diseases, and how they can be overcome via collaboration with and support for patients.

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

Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services:

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