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Summary of Edition of 26 February 2022

Rare Disease Day 2022: Share your colours

ERN eUROGEN: Webinar on Paediatric Intestinal Pseudo-obstruction

ERN TransplantChild: Webinar recording on portal vein complications available

ERKNet: Webinars of the Postgraduate Curriculum in Rare Kidney Diseases

EURO-NMD: Series of webinars

ERN ITHACA: Call for collaboration on Turner syndrome with Kabuki syndrome features

ERN ITHACA: Call for collaboration on EFNB2 variants

ECRD 2022: Call for poster abstracts submissions open

India: Assessing the potential of the National Health Mission for rare diseases

United States: The Undiagnosed Diseases Network’s experience in genomic testing for rare diseases

Revision of the EU general pharmaceuticals legislation: Public consultation outcome

Rare Diseases Research Challenges call: Launch of the Digital Tools for Rare Disease project

Patients' access to rare neuromuscular disease therapies across US private insurers

Overview of the European Union electronic Register of Post-Authorisation Studies

Awareness and agreement with neurofibromatosis care guidelines among specialists

New neonatal screening system for congenital heart diseases in Luxembourg

Gender differences in quality of life in patients with neurofibromatosis type 1

Analysis of the International Niemann-Pick Disease Registry

TEHDAS provides recommendations on semantic harmonisation for data interoperability

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
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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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Photo credit : Serimedis (unless otherwise stated)