viernes, 14 de abril de 2017

Orphanet Journal of Rare Diseases | Rare Disease Day 2017

Orphanet Journal of Rare Diseases | Rare Disease Day 2017

Biomed Central

Orphanet Journal of Rare Diseases

Findacure Rare Disease Essay Competition

Earlier this year, we partnered with Findacure to run their Student Voice Essay Competition.
Medical and biological undergraduate students across Europe set pen to paper to record their rare disease opinions, experience, and knowledge. 
We’d like to thank everyone who took part in the contest and are proud to present our finalist entries.
Winning Entry
Finalists Entries

Read some of the top Research & Review articles from OJRD


Cystinosis: a review
Mohamed A. Elmonem, et al.
Published on: 22 April 2016

IgG4- related disease: an orphan disease with many faces
Herwig Pieringer, Ilse Parzer, Adelheid Wöhrer, Petra Reis, Bastian Oppl and
Jochen Zwerina

Published on: 16 July 2014
Congenital neutropenia: diagnosis, molecular bases and patient management
Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui and Christine Bellanné Chantelot
Published on: 19 May 2011

Springer Healthcare IME

We are pleased to announce the launch of a new independent educational resource created by Springer Healthcare IME for the rare disease, Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID).
New Horizons in the Management of ADA-SCID is an independent initiative steered by an editorial board of multidisciplinary experts: Andrew Gennery, Robbert Bredius and Bobby Gaspar.
Launched on Rare Disease Day 2017, the ADA-SCID portal is designed to educate healthcare professionals who are presented with ADA-SCID patients, in the biology of the disease, how to screen for it, and current and emerging treatments.
New Horizons in the Management of ADA-SCID aims to facilitate this understanding by providing direct access to the latest research and commentary in the form of:
·         Independent editorials
·         Published articles
·         Expert interviews
·         Webinars
·         Case studies
In addition, a new Orphanet Journal of Rare Diseases review on ADA-SCID will appear on the portal before the end of 2017.  Please visit the site today and sign up to receive an email alert when more educational content is added.
New Horizons in the Management of ADA-SCID is produced by Springer Healthcare IME.
This educational activity is supported by an educational grant from GlaxoSmithKline.

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