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Summary of Edition of 17 January 2022

2021: A year of great challenges and unique opportunities for the rare disease community

Rare Disease Day 2022

EpiCARE: Webinars on rare and complex epilepsies

EURO-NMD: Series of webinars

ERKNet: Survey on Cinacalcet in infants

VASCERN: Recording of the webinar on Lymphatic Malformations

RD-Code: Final results of EU project to promote coding with ORPHAcodes

ECRD 2022: Call for poster abstracts submissions open

Childhood rare diseases and the UN Convention on the Rights of the Child

Australia: Government announces participation in the European Joint Programme on Rare Diseases

EU Parliament adopts HTA Regulation

Rare cancers included in European Parliament’s Special Committee on Beating Cancer final report

Member State Data on Cross-Border healthcare – Year 2020 Report

Recommendations of the European Expert Group on Orphan Drug Incentives on the EU orphan drug policy framework

Effects of socio-economic factors on research over systemic sclerosis

Neurofibromatosis 1 and economic inequality in Finland

Committee for Orphan Medicinal Products: Positive opinions for orphan designation

CHMP grants market authorisation for 2 medicines

26 products granted orphan designation by the FDA

Current status of newborn screening for Pompe disease in Japan

Health-related quality of life in patients with primary Sjögren’s syndrome in Europe

Lessons learned and best practices from the DevelopAKUre consortium

China's National Rare Diseases Registry System

The Matchmaker Exchange initiative in Canada

NORTH & C-Path: two-part video series on patient-focused drug development

Identifying patients with elevated risk for Fabry disease using a machine learning algorithm

Prevalence of genetic conditions among children in the United States

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)