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Summary of Edition of 25 September 2026

Preparing for uncertainty: ERN coordinators' recommendations to improve crisis preparedness for rare diseases

Care without borders: VISIMalRares and rare diseases on the France-Belgium border

Establishing a common framework for care pathway development

Key findings & recommendations from the first JARDIN hackathon

European Commission publishes Finnish & Slovak translations of ERN presentation booklet

Abstracts from the ERICA ERN Research Conference published

Recent articles and resources published by ERNs

New Orphanet Report Series published

New Zealand publishes first Rare Disorders Strategy Implementation Plan

Participate in the IRDiRC survey on digital endpoints in rare disease clinical research

Canada: CORD calls for renewal & expansion of National Strategy for Drugs for Rare Diseases

Current status of knowledge and drug development for rare diseases: findings from IRDiRC's PLUTO initiative

USA: HRSA announces creation of national newborn screening stakeholder workgroup

Global Biodata Coalition publishes new strategy 2026-2030

Zebra Diagnosis Coalition publishes findings on barriers to timely diagnosis

Updated version of Luxembourg guide for people living with a rare disease now available

High-level conference addresses strategies for improving access to treatment in rare diseases

Apply for the EURORDIS Open Academy Schools 2027

Public consultation on European partnerships to be implemented as joint undertakings

Apply to join the ELIXIR Industry Advisory Committee

Exploring policy mechanisms to reduce rare disease financial burden in China

Understanding stakeholder perspectives to facilitate drug repurposing for rare diseases

EMA: New market authorisations with an orphan designation from June to August 2026

EMA: New orphan designations accorded by the COMP from June to August 2026

FDA: New market authorisations with orphan designation granted in June 2026

FDA: New orphan designations approved from June to August 2026

How well do healthcare professionals know rare diseases? A scoping review

Overcoming structural barriers for better coordination of rare disease care

Gaps and trends in research on stakeholder perspectives on genomic NBS

Developing a Pakistani registry for inherited metabolic diseases

Building multilevel data strategies for rare disease: the case of rare eye diseases in France and beyond

Using deep learning to detect rare diseases in electronic health records

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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: Alexis Arzimanoglou, Valentina Bottarelli, Julie Bruyère-Zrelli, Anna Bucsics, Ivana Cattaneo, Monica Drum, Holm Graessner, Victoria Hedley, Daria Julkowska, Samantha Parker, Dave Pearce, Julien Poulain, Perrine Renard, Charlotte Rodwell

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Carolin Czasch (Austria), Annabelle Calomme (Belgium), Rumen Stefanov (Bulgaria), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Mikko Seppanene (Finland), Oleg Klivdize (Georgia), Carina Thomas (Germany), Eleftherios Thireos (Greece), Atif Awan (Ireland), Ohad Birk (Israel), Massimo Raponi (Italy), Atsuhiko Kawamoto (Japan), Gulnara Salavatovna Svyatova (Kazakhstan), Madara Auzenbaha (Latvia), Birute Tumiene (Lithuania), Silvana Masi (Luxembourg), Dijana Plaseska Karanfilska (North Macedonia), Wendy va Zelst-Stam (Netherlands), Stein Are Aksnes (Norway), Agnieska Madej-Pilarczyk (Poland), Carla Pereira (Portugal), Cristina Rusu (Romania), Maja Stojiljkovic (Serbia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey)

Country Correspondants: Gareth Baynam (Australia)


The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it can not be considered to reflect the views of its funders. Its funders do not accept any responsibility for use that may be made of the information it contains.

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