Patient Journey on PDH Deficiency
A comprehensive guide for PDH Deficiency patients covering symptoms, diagnosis, treatment and life transitions, available in multiple European languages.
Patient Journey on PDH Deficiency Read More »
Networks
Irish Society of Inherited Metabolic Disorders (ISIMD) – Annual Conference 2024
The Irish Society of Inherited Metabolic Disorders hosts its annual conference at the Gresham Hotel Dublin with virtual participation available.
Irish Society of Inherited Metabolic Disorders (ISIMD) – Annual Conference 2024 Read More »
EJP RD Final Conference / 27-28 May 2024
The European Joint Programme on Rare Diseases concludes with a hybrid conference in Bari, bringing together experts to explore its lasting impact.
EJP RD Final Conference / 27-28 May 2024 Read More »
Second Italian National Meeting on Rare Inherited Metabolic Diseases in Adults
A national training event in Florence for young professionals focusing on diagnosis and management of Inherited Metabolic Diseases in adult patients.
Second Italian National Meeting on Rare Inherited Metabolic Diseases in Adults Read More »
Questionnaire on the Treatment of Primary Mitochondrial Disorders with Vitamins and Cofactors
MetabERN launches a worldwide survey for PMD specialists to document vitamin and cofactor treatments, aiming to develop standardized recommendations.
Positive Results for MetabERN and ASUFC in the Five-Year Evaluation Process of European Reference Networks (ERN)
The European Reference Network for Rare Metabolic Diseases and its coordinating centre receive outstanding results in the ERN five-year evaluation process.
20th Annual WORLDSymposium – February 4-9, 2024
The annual scientific meeting in San Diego brings together global experts in lysosomal diseases to share advances in research and clinical developments.
20th Annual WORLDSymposium – February 4-9, 2024 Read More »
Call on the EU institutions and EU Member States’ governments to stand by the European Reference Networks
European Reference Networks coordinators and patient groups address EU leadership to ensure continued support for rare disease healthcare across Europe.
Conference on Rare diseases and European reference networks in Bilbao
The Spanish EU Presidency conference in Bilbao addresses rare diseases and European Reference Networks while featuring an ALS-focused event.
Conference on Rare diseases and European reference networks in Bilbao Read More »
Brain Metabolism Workshop – 6-7 July 2023
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
Brain Metabolism Workshop – 6-7 July 2023 Read More »
6th World Conference on CDG – 21-23 July 2023
Global experts and families gather in Portugal to discuss advances in Congenital Disorders of Glycosylation treatment and care.
6th World Conference on CDG – 21-23 July 2023 Read More »
2023 CTX International Scientific Meeting in Jerusalem
International experts gather in Jerusalem to advance research and clinical collaborations in Cerebrotendinous Xanthomatosis.
2023 CTX International Scientific Meeting in Jerusalem Read More »
