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Summary of Edition of 06 May 2025

EURORDIS study reveals key findings on disability recognition and social participation for people with rare diseases

ORPHAcodes and rare disease data interoperability: Results from the OD4RD2 project

Recent scientific publications by ERNs

Endo-ERN & ERN-BOND: EuRREB Core Registry & e-REC Annual Reports published

ERN-RND: New video on NBS for metachromatic leukodystrophy

EURO-NMD: Presentations from 2025 annual meeting now available online

eUROGEN: New flyer on patient empowerment

GENTURIS: New care pathways and patient journeys available

ReCONNET: Share your story

RITA: New Patient Journey on small vessel vasculitis

VASCERN: New booklet on pregnancy, family planning and vascular anomalies now available

USA: NORD launches Claim Your Care platform for health insurance information

Potential and limitations of genomic research in the Greater Middle East

MEPs issue a unified call for a European Action Plan on Rare Diseases

Looking back on the Warsaw EU Conference on Rare Diseases

EURORDIS & EPF call for protection of patient involvement in EMA decision-making

HealthData@EU: Release 3 of the Central Platform, now available in open-source

Discover the EJP RD Rare Diseases Clinical Trial Toolbox

Understanding debates around orphan drug pricing

Policy solutions to promote drug-device combinations for rare disease

EMA: Two new market authorisations with an orphan designation in March 2025

EMA: Five new orphan designations accorded by the COMP in March 2025

FDA: Seven new market authorisations with orphan designation granted in March 2025

FDA: Forty-five new orphan designations approved in March 2025

Mental health trajectories of adults with rare diseases during the COVID-19 pandemic

Use of retrospective clinical global impression scores to form historical control groups in clinical trials

Credits

OrphaNews, 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 Bruyere-Zrelli, Andrea Osvoll, Stanislav Ostapenko, 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)
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.