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Summary of Edition of 29 February 2024

Happy Rare Disease Day!

Black Pearl Awards 2024: Honouring the rare disease community

EURO-NMD registry and Registry Hub: a patient-centred approach to data collection and sharing

ERN-EYE: 6th Scientific Workshop recap

ERNICA guidelines on gastroschisis

RARE-LIVER video: how to use R-LIVER

Orphanet launches an upgraded website

*EXTENDED* Submit your poster abstract for ECRD 2024

Australia: RArEST Project launches first-ever National Recommendations for Rare Disease Healthcare

Advancing diagnosis and research: Findings from the IRDiRC Indigenous Population Task Force

ICD-11 2024 update now available

NORD publishes annual State Report Card

In Memoriam: John Ryan

ERICA: Updated Catalogue of Services available

Together4RD announces first pilot projects

EMA: Progress update on ATMP pilot

EMA and HMA launch new catalogues of real-world data sources and studies

Launch of the ELIXIR-STEERS project

Ireland: first National Rare Disease Plan Patient Forum meeting

Considerations for using RWE in HTA decision-making

Barriers to gene therapy for people living with haemophilia

Patient experiences of genetic diagnosis in Austria

Public perspectives on genomic NBS in Australia

HRQoL and mood disorders in beta-thalassemia

Developing a machine learning pathway for pre-diagnosis of rare ciliopathies

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, Alexis Arzimanoglou, Henri Jautrou, Holm Graessner, Julie Bruyere-Zrelli, Andrea Osvoll, Stanislav Ostapenko, Valentina Bottarelli, Dave Pearce, Samantha Parker, Alexandra Heumber Perry

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.