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Summary of Edition of 23 December 2020

Season’s Greetings from Orphanet

Public consultation on the EU legislation on medicines for rare diseases and medicines for children

ERICA Project: Joining forces to integrate research and innovation capacity across all 24 European Reference Networks

MetabERN: COVID-19 impact on rare metabolic patients and healthcare providers

EURO-NMD: International Neuromuscular COVID-19 Database

ERN-RND and ERN-NMD: Webinars for 2021

ERN-EuroBloodNet: Repository of Clinical Practice Guidelines and Other Clinical Decision Making Tools

ERN-EuroBloodNet: 15th ASCAT session jointly organised by the ERN-EuroBloodNet, ASCAT and BSH

ERN ITHACA: Call for collaborative clinical research on developmental disorders

New texts of the Orphanet Encyclopedia translated to Hebrew

Rare diseases in Asian-Pacific

Gene Curation Coalition Database now online

Rare diseases challenges in the US, barriers to diagnosis, care and treatment

A US state-funded initiative in Alabama on rare diseases and genome sequencing

Black Pearl Awards, 2021 Edition

New Rare Barometer survey on the future of rare diseases

EURORDIS statement on COVID-19 vaccine and its plea for vaccine access for rare disease patients

Drug approval challenges in rare cancers

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation October 2020

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation November

Meeting highlights from the Committee for Medicinal Products for Human Use - October 2020

Meeting highlights from the Committee for Medicinal Products for Human Use - November 2020

Meeting highlights from the Committee for Medicinal Products for Human Use - December 2020

Ehlers–Danlos Syndrome in the Day-to-Day Life of Patients

EUROMAC, the European registry for patients with McArdle disease and other muscle glycogenoses

Prospective Cohorts and Cancer Registry for Studies on Rare Cancers in Canada

An integrative computational approach for orphan and complex diseases to identify pathways between the two

Computational drug repurposing and Application Programming Interfaces using Data Access in the case of rare diseases and

Machine learning methods applied to clinical NGS big data and complex hereditary diseases

Backpack Health platform aims to reduce data‐sharing barriers between rare diseases patients and the medical community

Canada: Data stewardship and rare disease

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),  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)