Recent scientific publications by ERNs
ReadApply for the ERKNet clinical exchange programme!
ReadEuroBloodNet: New educational videos available
ReadNew eUROGEN resources on Anorectal Malformations
ReadThe new MetabERN website is online!
ReadRARE-LIVER surveys for patients and physicians
ReadRARE-LIVER funding call for 2026 workshops
ReadUK: England Rare Diseases Action Plan 2025 published
ReadUSA: NORD publishes new report on NBS data reuse and public trust
ReadUSA: NORD publishes annual State Report Card
ReadUSA: Francis Collins retires from NIH
ReadCasa dos Raros: Towards better access to comprehensive rare disease care in Brazil
ReadJARDIN releases new Care Pathways Toolkit
ReadEU Parliament launches public consultation on rare diseases
ReadLaunch of the EU Parliament Intergroup on Cancer and Rare Diseases
ReadEHDS Regulation enters into force
ReadLaunch of the Beyond One Million Genome plus project
ReadSwitzerland officially recognises first cohort of rare disease reference centres
ReadPromoting access to high-cost therapies in LMIC: Lessons from Pompe disease in Brazil
ReadEMA: New market authorisations with an orphan designation in January and February 2025
ReadEMA: New orphan designations accorded by the COMP in January and February 2025
ReadFDA: New market authorisations with orphan designation granted in January and February 2025
ReadFDA: New orphan designations approved in January and February 2025
ReadOverview of the EU rare disease therapeutic space
ReadUnderstanding rare disease trajectories in Chile through the eyes of patients and families
ReadUnderstanding professional perspectives of AI use in next generation sequencing-based NBS
ReadOrphaNews, The Newsletter for the Rare Diseases Community.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Madeline Cuillerier
Scientific editor: Perrine Renard
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Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Ivana Cattaneo, Daria Julkowska, Alexis Arzimanoglou, Holm Graessner, Julie Bruyere-Zrelli, Andrea Osvoll, Stanislav Ostapenko, Valentina Bottarelli, Dave Pearce, Samantha Parker, Alexandra Heumber Perry, Perrine Renard
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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.