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Summary of Edition of 30 April 2019

ERN Board of Member states meeting: consolidation and expansion of the networks

New abstracts translated in Japanese

Australia: new funding scheme with a focus on rare diseases

A comparison of rare disease policies and frameworks in 23 countries

China’s renewed attention on rare diseases and the special case of Shanghai as an example for the rest of the country

Setting international standards for cross-border exchange of patients’ health data

Newborn screening for severe combined immunodeficiency

 Accessibility of care and drugs in Bosnia and Herzegovina

Paediatric drug development: a new trend and the path towards international collaboration

Hurdles for the development of paediatric orphan medicines

A need to improve the understanding of the care of rare disease patients in primary care

Assessing the reliability and validity of two questionnaires evaluating fatigue in RYR1 related disorders 

Analysis of Chinese patients with late onset Pompe disease in the global Pompe registry

Importance of clinical guidelines for genetic counseling practice following a NIPT positive results

Quality indicators for paediatric medulloblastoma

Travel burden of Merkel cell carcinoma

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OrphaNews, The Newsletter for the Rare Diseases Community.
OrphaNews is supported by the European Commission through the pilot projet 'Rare 2030 - a participatory foresight study policy-making rare diseases' (PP-1-2-2018-Rare 2030).
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Florent Simon
Editor for Scientific Content: Agathe Franck
Scientific monitoring: Hélène Jagline
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Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Franz Schaefer, Ivana Cattaneo

ADVISORY EDITORIAL BOARD
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), Marios Antoniades (Chyprus), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Susanne Morlot (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Ieva Malniece (Latvia), Birute Tumiene (Lithuania), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (Poland), Mario Carreira (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-Ben Brahim (Tunisia), Sarah Stevens (UK)
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