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Summary of Edition of 12 April 2023

ERN Guidelines Programme: Methodological handbooks now available

EURACAN: Protocol for a rare head and neck cancer registry

ERN-BOND: New findings on disease burden of achondroplasia

ReCONNET: New methodology to strengthen rare disease care post-COVID-19

Cross-ERN Workshop: Liver Transplant for Inborn Errors of Metabolism

Canadian government announces first National Strategy for Drugs for Rare Diseases

OD Expert Group launches policy proposals in European Parliament

EURORDIS' priorities for the revision of the Orphan Medicinal Products Regulation

Recap of the Rare Cancers Europe strategy meeting

DARWIN EU: Completion of first studies and call for new partners

EU4Health stakeholder consultation: Call for responses

Nominations for the 2024 EURORDIS Black Pearl Awards are open!

A new consortium promoting access to gene therapy for ultra-rare diseases

Current and future role of genetics in drug development

A new index for measuring vulnerability in paediatric cancer care for LMIC

When is the best time to screen for treatable genetic disorders?

Q.RARE.LI.: Leveraging psychosocial support to improve quality of life

Patient centricity in clinical trial design: Perspectives on paediatric rare diseases from the ISCTM 2020 Autumn

Implementation of a national registry for GLUT1-DS

Public perspectives on big data collection in South Korea

AI for paediatric cancer diagnosis: Current and future applications

Sources of uncertainty in estimations of rare disease prevalence

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
The production of OrphaNews is supported by the Fondation IPSEN – Fondation de France.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Madeline Cuillerier
Editor for Scientific Content: Henri Jautrou
Scientific monitoring: Hélène Jagline
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Ivana Cattaneo, Daria Julkowska, Hélène Dollfus, Alexis Arzimanoglou, Henri Jautrou, Holm Graessner, Julie Bruyere-Zrelli

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Tamara Sarkisan (Armenia),  Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), 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), Madara Auzenbaha (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), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)

Country Correspondants: Gareth Baynam (Australia)
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)