Back

Summary of Edition of 11 April 2022

OD4RD : Orphanet Data for Rare Diseases Direct Grant kicks off

ERN-wide survey on the challenges related to pregnancy and family planning in rare diseases

ERN eUROGEN: Training videos joint with ERN ERNICA available

ERN eUROGEN: Clinical Patient Management System activities 2017-2021

ERKNet: Ask the Expert initiative

MetabERN: Study on the evolution of rare disease registries

MetabERN: Article on the Screen4rare initiative for newborn screening programmes in Europe

ERN RITA: Workshop on immune mediated disorders

ECRD 2022: Call for poster abstracts submissions extended

United Kingdom: First national Rare Diseases Action Plan published to mark Rare Disease Day

Australia: Rare Voices Australia launches the Rare Metabolic Disease Workforce White Paper

New Zealand: National survey reveals crucial health inequities for the rare disease community

US: NORD announces the 2022 Rare Impact Award Honourees

Official EU resources of information related to the ongoing crisis in Ukraine

EJP RD: Rare Diseases Clinical Trials Toolbox

Is whole genome sequencing more cost-effective than whole-exome sequencing for children at risk of genetic disorders?

Healthcare utilisation and related costs among patients with Idiopathic pulmonary fibrosis in Germany

Committee for Orphan Medicinal Products: Positive opinions for orphan designation

CHMP grants market authorisation for 1 medicine

29 indications granted an orphan designation by the FDA

Development of a patient journey map for people living with cervical dystonia

Mothers' knowledge and attitudes about newborn screening in Jordan

Case study of the Immunology and Congenital Disorders of Glycosylation questionnaire

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)
Orphanet - All rights reserved

Disclaimer: 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 its financers.

Photo credit : Serimedis (unless otherwise stated)