Rare Disease Day 2017

This year’s Rare Disease Day is focussing on the theme of research, and we here at Orphanet Journal of Rare Diseases are inspired by its 2017 slogan; ‘With research, possibilities are limitless’. The importance of this truth cannot be overstated, as continual research is necessary in order to unlock the mysteries often presented by rare diseases. In a field where concrete solutions are not immediate, it is essential to mine the different research we already have, to make connections where none existed previously; to complement that information with new findings; and to listen to the voices of rare disease patients, who often provide the foundations of what is known about these medical enigmas.

Take a look below to see our material that fits into this year's theme.

Raremark

Raremark's Sarah Venugopal (Head of Engagement and Communication) speaks to the significance of patient-led research for rare diseases:

Patient-led research in rare disease

Nature Reviews

Nature Reviews Neurology has made the Review from its rare diseases series, Clinical and biological progress over 50 years in Rett syndrome, free for a month in support of Rare Disease Day 2017. Go straight to the article or browse the series.

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

LETTER TO THE EDITOR

"It's not all in my head!" - The complex relationship between rare diseases and mental health problems.

by Rebecca Nunn

Published on: 27 February 2017

Finalists Entries

Implementing the UK Strategy for Rare Diseases more effectively: A patient perspective - by Srinivasa Rambhatla
The rare disease revolution: how it will help shape the future of medicine - by Ferenc Gutai

Read some of the top Research & Review articles from OJRD

Review

Cystinosis: a review

Mohamed A. Elmonem, et al.

Published on: 22 April 2016

Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes

Marcelo Mendes Lavezzo, et al.

Published on: 24 March 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 and supported by an educational grant from GlaxoSmithKline.