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Summary of Edition of 11 August 2017

Orphanews International wishes you a great summer

Luxembourg makes steps towards a national plan on rare diseases

Establishing rarity in the context of orphan medicinal product designation in the European Union

List of rare diseases and synonyms in alphabetical order

Prevalence and incidence of rare diseases: Bibliographic data N°1 & 2

Can Healthcare Services be prioritised without NICE guidelines?

EURORDIS speaks up for rare diseases patients and carers as concerns the burden of balancing care and life

Spain’s experience regarding newborn screening for Fabry disease

Analysis of the economic impact of the implementation of guidelines in Canada on prenatal testing techniques for foetal

Insights on spinal muscular atrophy: which attitude to adopt towards genetic screening

Aneuploidy trial insights: preimplantation genetic screening for under 40 year old women

Paediatric Drugs: what are the new challenges from ACC/AAP/AHA Health Policy 2017

When data, models and workflow sharing drives innovation

Mendel, MD: new software to analyse Mendelian disorders

New recommendations for treatment of mucopolysaccharidosis type III

Credits

OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE (RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Kate Bushby, Ana Rath
Editor: Divya Unni, Timothy Hood, Déborah Deprez
Editor for Scientific Content: Sophie Höhn
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Editorial Board: Valentina Bottarelli, Teresinha Evangelista, Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

Advisory Editorial Board: Ségolène Aymé, Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Adam Heathfield, Alastair Kent, Milan Macek, Till Voigtländer

INTERNATIONAL CORRESPONDENTS
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK) 
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Disclaimer: This newsletter is part of the project / joint action .677024 / RD-ACTION. which has received funding from the European Union.s Health Programme (2014-2020).
The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

 

Photo credit : Serimedis (unless otherwise stated)