Updated Orphanet classification of spinal dysraphisms published
ReadCPMS 2.0 mobile app now available
ReadERN Overarching Transition Group survey on transition of care
ReadERKNet: New guidelines adopted
ReadEuroBloodNet: Patient survey on gene therapy for PKD and CDAII
ReadRecent articles and resources published by ERNs
ReadRare Diseases International call for applications to join Care Pathway Working Group
ReadCanada: CORD calls for investment in comprehensive rare disease programs
ReadGenetic Alliance UK publishes report on newborn screening decision-making
ReadUSA: NORD 2025 Rare Impact honourees announced
ReadDiagnostic reference networks in low- and middle-income countries: Learnings from the LSD Brazil Network
ReadLooking back on the JARDIN data management workshop
ReadEuropean Commission unveils proposed budget for 2028-2034
ReadImproving access to orphan drugs in Europe: A new framework from the OD Expert Group
ReadERDERA survey on needs for consultancy services
ReadEuropean Commission updates rules on medical device expert panels
ReadEuropean launch of the Nordic Rare Diseases Roadmap
ReadEURORDIS to launch new Rare Barometer survey in September
ReadOverview of barriers and opportunities in rare disease care in Moldova
ReadPatient associations call for a comprehensive definition of unmet medical need in EU pharma package
ReadExploring alternative models for financing therapeutic development in rare diseases: The case for venture philanthropy
ReadEMA: Four new market authorisations with an orphan designation in June 2025
ReadEMA: Nineteen new orphan designations accorded by the COMP in June 2025
ReadFDA: Five new market authorisations with orphan designation granted in June 2025
ReadFDA: Thirty-six new orphan designations approved in June 2025
ReadSystematic review of tools to assess psychological impacts of rare diseases on primary caregivers
ReadEthical challenges for newborn screening in the UK: The case of the Newborn Genomes Programme
ReadApplying Item Response Theory to clinical trials for rare neurological diseases
ReadUnderstanding ChatGPT's ability to provide information on rare diseases
ReadTo continue reading...
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, Charlotte Rodwell, Anna Bucsics, Ivana Cattaneo, Daria Julkowska, Alexis Arzimanoglou, Holm Graessner, Julie Bruyère-Zrelli, Andrea Osvoll, Julien Poulain, Valentina Bottarelli, Dave Pearce, Samantha Parker, Alexandra Heumber Perry, Perrine Renard
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)
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