European Parliament Consultation on Rare Diseases

News, Networks, News for Patients, Other

On 28 February 2025, the newly established Committee on Public Health (SANT) of the European Parliament launched an important public consultation focused on rare diseases. The objective of this consultation is to inform the Committee’s upcoming initiatives by enhancing understanding and knowledge of the challenges encountered by individuals affected by rare diseases. Additionally, it seeks […]

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#UNIAMOleforze campaign: a Rare Diseases Day Event Held in Udine Castle

News for Patients, Events, Networks, News, Past Event

On February 11, the Parliament Hall of Udine Castle hosted an event for Rare Diseases Day, organized by UNIAMO Federazione Italiana Malattie Rare in collaboration with the Udine University Hospital (Azienda Sanitaria Friuli Centrale-ASU FC) and MetabERN. This initiative was part of the #UNIAMOleforze campaign, featuring over 60 events throughout February to raise awareness of

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MetabERN Annual Board Meeting 2024

News, Education, Events, News for Patients

Summary of key discussions and outcomes from the 2024 MetabERN Annual Board Meeting, focusing on advancements in rare metabolic disorder care.

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National Workshops on Patients’ Rights and Rare Diseases

Events, News for Patients, Other

MetabERN organizes national workshops to educate patients and families about their rights and the challenges of rare diseases.

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Patient Journey on PDH Deficiency

News, Education, Networks, News for Patients

A comprehensive guide for PDH Deficiency patients covering symptoms, diagnosis, treatment and life transitions, available in multiple European languages.

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MetabERN supports Rare Disease Day 2024

News, Events, News for Patients

The MetabERN patient community shares personal stories and experiences through video messages in support of the international Rare Disease Day 2024.

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20th Annual WORLDSymposium – February 4-9, 2024

News, Events, Networks, News for Patients

The annual scientific meeting in San Diego brings together global experts in lysosomal diseases to share advances in research and clinical developments.

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Call on the EU institutions and EU Member States’ governments to stand by the European Reference Networks

Networks, News, News for Patients, Press Releases

European Reference Networks coordinators and patient groups address EU leadership to ensure continued support for rare disease healthcare across Europe.

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Swedish SLOS Conference – October 2, 2023

Events, News, News for Patients

A collaborative conference on Smith-Lemli-Opitz syndrome in Gothenburg brings together families and medical professionals with both onsite and online access.

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Brain Metabolism Workshop – 6-7 July 2023

Education, Education for Patients, Education for Professionals, Events, Networks, News, News for Patients

From 6 to 7 July 2023, the MetabERN centre Sant Joan de Déu Hospital in Barcelona will host the Workshop: “Brain Metabolism Workshop: from rare diseases to common biological pathways”. This will be an excellent occasion for patients, clinicians, and researchers for sharing knowledge and new ideas on brain metabolism as a transversal approach for

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