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Summary of Edition of 17 July 2026

ECRD 2026: Rare diseases in a changing & competitive Europe

New European Commission factsheets on ERNs and cross-border healthcare

Learn more about ERNs in new video series

Recent articles and resources published by ERNs

The 2026 Orphanet Nomenclature Pack is online!

New publication on rare disease coding at the global level

Celebrating 25 years of the French Rare Disease Platform

Outcomes of the 2nd International Conference on CRNs for Rare Diseases

WHO report calls on countries to expand newborn screening

Rare Diseases International names Ravi Ram as new CEO

USA: What new Medicaid work requirements mean for the rare disease community

Australia publishes first National Health and Medical Research Strategy

Genetic Alliance UK report sheds light on involving patient organisations in research

USA: FDA publishes draft guidance on accelerating gene and cell therapy approval

Sweden & Czechia introduce new national plans for rare diseases

EURORDIS: New Rare Barometer findings shed light on mental health challenges in the rare disease community

EURORDIS calls for EU collaboration on newborn screening

TEHDAS2 publishes new guidance and technical documents

Using early health economic modelling to optimise development of health technologies

EMA: New market authorisations with an orphan designation in April and May 2026

EMA: New orphan designations accorded by the COMP in April and May 2026

FDA: New market authorisations with orphan designation granted in April and May 2026

FDA: New orphan designations approved in April and May 2026

Understanding patient experiences and impact of genomic testing for rare diseases and cancer

Great expectations: potential legal and ethical challenges of missed cases in genomic newborn screening programmes

Do generic quality of life measures accurately capture the rare disease experience? Understanding patient perspectives

Initial assessment of the Polish non-commercial trail programme

Meet RaraSwed, the Swedish national rare disease quality registry

Developing re-consent materials for paediatric genomic data sharing in Japan: The role of public and patient involvement

RareGPS, a new framework for prioritising drug targets for rare diseases

South Africa: Estimating the burden of rare diseases using Orphanet data

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

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Till Voigtlander (Austria), Annabelle Calomme (Belgium), Rumen Stefanov (Bulgaria), Marios Antoniades (Cyprus), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Oleg Klivdize (Georgia), Carina Thomas (Germany), Eleftherios Thireos (Greece), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Gulnara Salavatovna Svyatova (Kazakhstan), Madara Auzenbaha (Latvia), Birute Tumiene (Lithuania), Silvana Masi (Luxembourg), Dijana Plaseska Karanfilska (North Macedonia), Abdelaziz Sefiani (Morocco), Wendy va Zelst-Stam (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (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)
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.