Back

Summary of Edition of 27 February 2020

Rare Disease Day 2020: Today we are the 300 million

Black Pearl Awards 2020

2020 EURORDIS Policy event: Reframing rare

EU Parliamentary Advocates Network for Rare Diseases to work on a new EU policy on rare diseases  

29th EURORDIS Round Table of Companies

RDI and WHO sign an agreement on a network of centres of excellence for rare diseases

Rare diseases are included in the Common Semantic Strategy of the European eHealth Network

Endo-ERN: Survey launched to collect patients’ new needs concerning medical research

ERNICA: Clinical exchange program officially launched

ERNICA: Two papers on consensus statements released following the Conference on the Management of Patients with

ERN-RND: New affiliated members

ERN-LUNG: 2020 European IPF Patient Summit

Results of the annual OrphaNews Reader Satisfaction Survey are available

Improving the identification of Patient Reported Outcome Measures: Collaboration between Orphanet and MAPI Research

Chile: Rare diseases challenges within Chilean healthcare system and legislation

Canadian Rare Diseases Models and Mechanisms Network to connect scientists and clinicians in the elucidation of rare

11th International Conference on Rare Diseases agreed for a global action for Africa

Overview of rare disease policies and orphan drug reimbursement in 12 Eurasian countries 

Rare 2030 Project: Trends affecting the future of rare diseases identified

EJP RD Networking Support Scheme call opened

Cross-border research to strengthen European cooperation in rare diseases

Healthcare digitalisation within the European Union Member States

Limited education on rare diseases for physicians in Spain

EURORDIS Patient Community Advisory Boards 

German legislation and negotiation of orphan drug prices

Genetic testing and periodical clinical screening at a high cost for families with dilated cardiomyopathy

28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases available to patients

Challenges and progress in rare diseases therapies

Trials studies on rare diseases are mostly neither completed nor published

Mapping studies to predict health utilities from Patient Reported Outcome Measures in rare diseases

Issues in emergency situations reported for children with rare bone disease

Pilot survey on early diagnosis of Poland Syndrome to improve quality of care in Italy

Gender differences, symptoms of depression and quality of life observed on systemic lupus erythematosus patients

Interactions of pharmaceutical companies with world countries, cancers and rare diseases from a Wikipedia network

Epidemiological study on inherited muscle diseases in the north of Spain

Credits

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: Josiane Kijigo
Editor for Scientific Content: Claire Bernard
Scientific monitoring: Hélène Jagline
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Irene Mathijssen, Daria Julkowska, 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)
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 the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

Photo credit : Serimedis (unless otherwise stated)