Patient Journey on PDH Deficiency
A comprehensive guide for PDH Deficiency patients covering symptoms, diagnosis, treatment and life transitions, available in multiple European languages.
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News
Postgraduate Course on Lysosomal Storage Disorders in Nierstein
On 26-29 June 2024 the 21st edition of the Postgraduate Course on Lysosomal Storage Disorders will be hosted in Nierstein, close to Mainz. The course aims to improve the knowledge of Lysosomal Storage Disorders in young physicians and scientists with an interest in this field and with clinical experience. The special atmosphere and the interactive
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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 »
MetabERN supports Rare Disease Day 2024
The MetabERN patient community shares personal stories and experiences through video messages in support of the international Rare Disease Day 2024.
MetabERN supports Rare Disease Day 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 »
DCTEP Learners’ Stories: What does an educational programme on IMDs have to offer to young healthcare professionals?
A medical resident shares insights on MetabERN’s educational programme for inherited metabolic disorders and its impact on professional development.
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.
MOOC From Lab to Clinic: Translational Research for Rare Diseases
The French Foundation for Rare Diseases launches an online course exploring translational research pathways from drug discovery to clinical trials.
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