Brain Metabolism Dialogues – webinar series
A joint MetabERN and SSIEM webinar series bridging clinical neurology and basic scientific research in brain metabolism.
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#UNIAMOleforze campaign: a Rare Diseases Day Event Held in Udine Castle
A Rare Disease Day event held at Udine Castle on 11 February 2025, organised by UNIAMO in collaboration with MetabERN.
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Join the 2025 ERNDIM-EQA Schemes: Registration Now Open
Healthcare professionals are invited to register for the 2025 ERNDIM External Quality Assurance schemes to ensure high standards in metabolic diagnostics.
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Career Opportunities at ERDERA
ERDERA Paris announces two Project Manager positions focused on rare disease research, covering funding, education, data management and expertise services.
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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 character
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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 for
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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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.
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“Genetic therapies” course in Heidelberg – 22-24 June
Registration is now open for the “Genetic therapies” course promoted by Recordati Rare Disease Fondation d’Entreprise, which will be held in person from 22 to 24 June 2023, in Heidelberg (Germany). The course will provide valuable insights into the rapidly evolving field of genetic therapies and their application in rare diseases, mainly inherited metabolic diseases. It
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2023 CTX International Scientific Meeting in Jerusalem
International experts gather in Jerusalem to advance research and clinical collaborations in Cerebrotendinous Xanthomatosis.
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