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Summary of Edition of 11 December 2020

Rare 2030: Backcasting the future of European Reference Networks

People living with a rare disease experienced disruption of care during first COVID-19 wave

ERICA Project: Mutualising efforts to integrate research and innovation capacity across ERNs

How rare disease patients and health professionals can benefit from the European Reference Networks, a video

ERN Skin :Patient satisfaction survey launch

ERN-ITHACA: Development of five ‘Patient Journeys’ on five rare diseases

EuRRECa and EuRR-Bone registries: e-Rec platform, an e-Reporting tool extended for Covid-19 monitoring

Northern Ireland: Improvements needed to support people living with a rare disease

Russia: Analysis of detection of rare diseases not included in reimbursement lists

Republic of Kazakhstan: Examining the orphan drug landscape and recommendations for the future

Manifesto for a European Health Union launched by former Commissioner V. Andriukaitis

New Rare Barometer survey on the future of rare diseases

Rare Digital Disease Day 2021 in Europe

Submissions for the annual EURORDIS Photo Award are now open

CYPRUS: RARE-e-CONNECT.eu: A secure online environment for knowledge-sharing in rare diseases

Republic of Ireland: Retrospective review of the contribution of rare diseases to paediatric mortality

Societal importance of values of New Zealanders’ in informing orphan drug funding decisions

Muscular Dystrophy patient advocacy groups give their keys to accelerating drug development

How to engage advisory boards in rare disease drug development processes

Portugal: A web-based interoperable registry for inherited retinal dystrophies

An integrative knowledge graph for rare diseases, from the Genetic and Rare Diseases Information Center (GARD)

The UMLS leveraged as a data standard for rare disease data normalisation and harmonisation

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

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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),  Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Marios Antoniades (Cyprus), Milan Macek (Czech Republic), John Oestergaard (Denmark), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Susanne Morlot (Germany), Helen Michelakakis (Greece), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Ieva Malniece (Latvia),  André Mégarbane (Lebanon), Birute Tumiene (Lithuania),  Dijana PlaseskaKaranfilska (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), Laszlo Kovacs (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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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)