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Summary of Edition of 23 April 2026

Looking back on Rare Disease Day 2026

Recap of the ERN transition of care workshop

EURO-NMD survey on living with ALS

Recent articles and resources published by ERNs

Register now for ECRD 2026!

How rare disease centres operate around the world: Case study findings from RDI

GA4GH publishes new tools on genetic discrimination, genomic NBS

Rare Disorders New Zealand survey findings provide insight into rare disease community's current challenges

UK: 2026 England Rare Disease Action Plan & NICE Quality Standard for rare diseases

Genetic Alliance UK publishes report on improving health equity for rare diseases

USA: FDA publishes draft guidance on developing individualised therapies for ultra-rare diseases

Australia: RVA publishes rare disease disability toolkit

Draft report in EU Parliament calls for a European rare disease framework

Member States call for reintroduction of operating grants for health NGOs

ERPS publishes briefing on newborn screening in EU Member States

Together4RD releases final activity report

Switzerland: kosek announces new rare disease reference centres

EMA adds new tools to PRIME

EMA: Stakeholder consultation on a concept paper for the development of novel products in paediatric oncology

HTACG 2025 annual report available now

Status quo of value assessment for rare disease drugs in China and recommendations for improvement

EMA: New market authorisations with an orphan designation from November 2025-February 2026

EMA: New orphan designations accorded by the COMP from November 2025-February 2026

FDA: New market authorisations with orphan designation granted from November 2025-February 2026

FDA: New orphan designations approved from November 2025-February 2026

Evaluating awareness and usefulness of the German OrphanAnesthesia project

Improving prenatal care equity in the UK: understanding Black parents' views of prenatal testing

Novel framework to facilitate the development and evaluation of patient registries

Comparing diagnostic accuracy of LLMs with traditional bioinformatics tools

Rare diseases among older adults in Veneto, Italy: 2002-2022

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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, Alexandra Heumber Perry, Perrine Renard

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