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

Featured article: challenges of funding orphan medicinal products

Contact domains of chromatin serve as a fundamental unit to regulate action of enhancers for target genes. In this study, the authors created deletion and inversion alleles of transition zones and other regions across the locus and investigated how they impinge on conformation. The work reveals diverse and context-dependent roles of CTCF in organizing chromatin conformation at different levels.

Featured supplement: ECRD 2018 Vienna

We are proud to present our latest supplement, the meeting abstracts from May's 9th European Conference on Rare Diseases & Orphan Products (ECRD). This year's meeting was held in Vienna, Austria. The theme of this year's conference was "Rare Diseases 360°"– collaborative strategies to leave no one behind.

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Call for papers: Rare Disease in the U.S.

Orphanet Journal of Rare Diseases is happy to open up a call for papers, for a new thematic series: Rare Disease in the United States. Please click here to see how you can contribute to this look at rare disease work in one of the field's biggest areas!

Editor-in-Chief

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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Articles

  1. Content type: Review

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    Authors: Renzo Galanello and Raffaella Origa

  2. Content type: Review

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    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.

ADA-SCID

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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Call for papers: Rare Disease in Spain

Orphanet Journal of Rare Diseases is excited to open up a call for papers, for a new thematic series: Rare Disease in Spain. Please click here to see how you can contribute a submission to this look at rare disease work in one of the field's biggest areas!

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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