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Summary of Edition of 23 May 2024

European Parliament adopts position on the European Health Data Space

ERN-EYE: New clincial trials webpage

ERN-EYE: New publication on Sorsby fundus dystrophy

ERN-EYE: General Annual Meeting recap

Endo-ERN: Current and past activities of an Affiliated Reference Center

MetabERN: Patient Journey on PDH deficiency

Orphanet Belgium: Towards a new National Rare Disease Plan

New abstracts added to Orphanet Encyclopaedia for Professionals

Scotland publishes first Genomic Medicine Strategy

NORD announces 2024 Rare Impact honourees

European Parliament votes to adopt EU Disability Card

Rare Disease Moonshot recommendations on translational research needs

Understanding JARDIN, the new Joint Action to support integration of ERNs

EU4Health targeted consultation

EJP RD Final Conference: Registration deadline extended

Share4Rare: 4th Call4Projects opens

Economic evaluation of orphan drugs: Challenges and opportunities

Resource allocation for high-cost treatments: Current approaches and future directions

Availability and accessibility of oncologic orphan drugs in Bulgaria

Utility of next generation sequencing for diagnosing and managing genetic disease in developing countries

Understanding patient preferences in genetic newborn screening: Protocol of a Screen4Care study

Protocol of the Swiss-Ped-IBrainD registry

Inherited retinal diseases in Portugal: Socioeconomic epidemiology

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.