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Orphanet Journal of Rare Diseases

Rare Disease Day 2017

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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.

Take our Rare Disease Quiz

We've put together some questions intended to trial your knowledge and open your eyes to some of the challenges patients and researchers come across when facing such diseases.

Don’t forget to share your score to spread the knowledge!


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

"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

Read some of the top Research & Review articles from OJRD


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


The involvement of patient organisations in rare disease research: a mixed methods study in Australia
Deirdre Pinto, Dominique Martin and Richard Chenhall
Published on: 12 January 2016

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
Sébastien Lévesque, et al.
Published on: 25 January 2016

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart
Hodgetts, Helen Leonard and Jenny Downs

Published on: 14 April 2016

A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy
Andrea Zanichelli, et al.
Published on: 6 February 2015

Disease and patient characteristics in NP-C patients: findings from an international
disease registry

Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara
Schwierin, Harir Drevon, Marie T Vanier and Mercé Pineda

Published on: 16 January 2013

Uveitis- a rare disease often associated with systemic diseases and infections- a
systematic review of 2619 patients

Talin Barisani-Asenbauer, Saskia M Maca, Lamiss Mejdoubi, Wolfgang Emminger,
Klaus Machold and Herbert Auer

Published on: 29 August 2012

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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