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Orphanet Journal of Rare Diseases

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

Featured article: Angelman syndrome: a review of the literature

Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features—movement disorders, communication impairments, behavior, and sleep. This review takes a look at some of the literature available on AS, to provide a better idea.

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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OJRD recognizes Rare Disease Day

Please visit our website on Rare Disease Day site on Wednesday, 28th February, for new publications (including the winner of Findacure's "Student Voice" essay competition), blogs, a collection of classic articles, a quiz to gauge your knowledge of rare diseases, and much more!

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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