MetabERN Annual Board Meeting 2024
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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Education
1st SYMPOSIUM “Connection Between Physics and Metabolism in Brain Function”
An analysis of how physical principles influence metabolic processes in brain function, highlighting recent research findings.
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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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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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Online Workshop: The Extended Neonatal Screening (ENS): Multidisciplinary Approach and Psychological Support to the Family
The Mariani Foundation Centre for Hereditary Metabolic Diseases of Childhood in Monza (Italy) is organizing the workshop “The Extended Neonatal Screening (ENS): Multidisciplinary Approach and Psychological Support to the Family” which will be held online on 8 April and on 15 April 2024. The Workshop aims: The Workshop will be conducted in Italian and receive accreditation
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.
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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.
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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DCTEP learners’ stories: How does an e-learning on IMDs really look like?
A Romanian physician discusses her experience with MetabERN’s educational programme and its practical impact on managing metabolic disorders.
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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.
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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
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Gyrate Atrophy of the Choroid and Retina – International hybrid symposium
Amsterdam UMC hosts a hybrid symposium on gyrate atrophy, bringing together experts and families for research updates and discussion.
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