2021: A year of great challenges and unique opportunities for the rare disease community
ReadSummary of Edition of 17 January 2022
Editorial
Political news
European News
EU Parliament adopts HTA Regulation
ReadRare cancers included in European Parliament’s Special Committee on Beating Cancer final report
ReadMember State Data on Cross-Border healthcare – Year 2020 Report
ReadRecommendations of the European Expert Group on Orphan Drug Incentives on the EU orphan drug policy framework
ReadScreening and prenatal diagnosis
Current status of newborn screening for Pompe disease in Japan
ReadQuality of life
Health-related quality of life in patients with primary Sjögren’s syndrome in Europe
ReadStudy design
Lessons learned and best practices from the DevelopAKUre consortium
ReadRegistries and biobanks
China's National Rare Diseases Registry System
ReadBioinformatics and biotechnology
Identifying patients with elevated risk for Fabry disease using a machine learning algorithm
ReadEpidemiology
Prevalence of genetic conditions among children in the United States
ReadScientific news
And also...
Credits
OrphaNews, The Newsletter for the Rare Diseases Community.
The production of OrphaNews is realised with the support of Fondation IPSEN, under the aegis of Fondation de France.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Nour Zargouni
Editor for Scientific Content: Henri Jautrou
Scientific monitoring: Hélène Jagline
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Franz Schaefer, Ivana Cattaneo, Daria Julkowska, Irene Mathijssen, Hélène Dollfus, Alexis Arzimanoglou, Henri Jautrou
ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Tamara Sarkisan (Armenia), Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Marios Antoniades (Cyprus), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Stefanie Weber (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Ieva Malniece (Latvia), Birute Tumiene (Lithuania), Dijana Plaseska Karanfilska (North Macedonia), Neville Calleja (Malta) Abdelaziz Sefiani (Morocco), Wendy va Zelst-Stam (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (Poland), Cristina Rusu (Romania), Sergey Kutsev (Russia), Dragica Radojkovic (Serbia), Gabriela Hrčková (Slovakia), Luca Lovrecic (Slovenia), Gabriela Hrčková (Slovakia), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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