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Summary of Edition of 01 December 2021

Adoption of the Resolution on PLWRD and their families by the UN Third Committee

ERN RARE-LIVER: European survey on paediatric drug formulations

ERN RARE-LIVER: Statement on SARS-CoV2 booster vaccinations

ERN RARE-LIVER: Survey on PSC

ERN eUROGEN: Series of webinars

EpiCARE: Webinars on rare and complex epilepsies

ERN ITHACA: Call for collaboration on GRIA-related disorders

ENDO-ERN: Webinar on radioiodine

ERN GENTURIS: 5-year anniversary conference

Ratification of the African Medicines Agency Treaty

First African Summit on Rare Diseases

United States: Establishment of 31 Rare Disease Centres of Excellence

New Zealand: Survey on rare disorders

European parliament debate on the European Action Plan on Rare Diseases

Implementation roadmap of the Europe’s Beating Cancer Plan

Italy: Adoption of a national law for Rare Diseases

EURORDIS Photo Award

Mitigating the budget impact of high-cost treatments for gene replacement therapies

Repurposing of authorised medicines: pilot to support not-for-profit organisations and academia

Clinical research focused in European adult women with minority diseases

Challenges and perspectives of caregivers of Behçet’s syndrome patients

Health-related quality of life in adult patients with mucopolysaccharidosis IVA

European Medicines Agency guideline on registry-based studies

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care

The Italian National Registry for Facioscapulohumeral dystrophy

Interoperability of Electronic Health Records in the EU

GA4GH: International policies and standards for data sharing across genomic research and healthcare

International federation of genomic medicine databases using GA4GH standards

The GA4GH Variation Representation Specification

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)