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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...
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Swedish SLOS Conference – October 2, 2023
The SLOS conference will be held in Gothenburg, a Swedish city on the west coast, on the 2nd of October 2023. It is targeted at families and professionals. Both families and experts will give...
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Conference on Rare diseases and European reference networks in Bilbao
Under the auspices of the Spanish Presidency of the EU Council and in cooperation with the authorities of the Basque Country, the city of Bilbao (Spain) will host the conference “Rare Diseases and...
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DCTEP learners’ stories: How does an e-learning on IMDs really look like?
Education on rare diseases, including Inherited Metabolic Disorders (IMDs) is key for knowledge sharing among healthcare professionals. MetabERN’s recently launched Diagnostic, Clinical and...
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MOOC From Lab to Clinic: Translational Research for Rare Diseases
The French Foundation for Rare Diseases is delighted to announce the upcoming opening of a new facilitation window of the MOOC From Lab to Clinic: Translational Research for Rare Diseases on October...
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Call on the EU institutions and EU Member States’ governments to stand by the...
Prof. Maurizio Scarpa, MetabERN Coordinator, together with all other 23 European Reference Networks (ERNs) Coordinators and patient advocacy groups has co-signed an open letter addressed to the...
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DCTEP Learners’ Stories: What does an educational programme on IMDs have to...
Welcome to the DCTEP Learners’ Stories, the collection of interviews which brings forth the voices and experiences of learners who have successfully completed MetabERN’s recently launched Diagnostic,...
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20th Annual WORLDSymposium – February 4-9, 2024
The 20th Annual WORLDSymposium is taking place in Manchester Grand Hyatt San Diego, San Diego, CA, USA from 4 to 9 February 2024. The notable annual scientific meeting, which focuses on lysosomal...
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Positive Results for MetabERN and ASUFC in the Five-Year Evaluation Process...
Double success for MetabERN, the European Reference Network for Rare Metabolic Diseases, coordinated by Prof. Maurizio Scarpa, and its coordinating centre, Azienda Universitaria Friuli Centrale...
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Questionnaire on the Treatment of Primary Mitochondrial Disorders with...
Primary mitochondrial disorders (PMD) continue to be without any curative or evidence-based therapies, but in many cases, clinicians use one or more vitamins or cofactors to support the patient’s...
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Second Italian National Meeting on Rare Inherited Metabolic Diseases in Adults
The second Italian national meeting on Inherited Metabolic Diseases in adulthood will take place on 19 January 2024 in Florence. The meeting is organized by the SIMMESN’s Working Group on adult...
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EJP RD Final Conference / 27-28 May 2024
The EJP RD Final Conference is scheduled to take place from May 27th to May 28th, 2024 in Bari, Italy, this conference is set to bring together leading experts, professionals, and enthusiasts from...
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Metabolic myopathies – challenges and solutions / Split, Croatia on May...
The Recordati Rare Diseases Foundation organizes the course “Metabolic myopathies – Challenges and Solutions” which will take place from 16 to 18 May 2024 in Split, Croatia. Early diagnosis and...
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MetabERN supports Rare Disease Day 2024
On the last day of February of every year, the international, patient-led awareness campaign organised by EURORDIS brings together millions of people worldwide in solidarity with the rare disease...
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Irish Society of Inherited Metabolic Disorders (ISIMD) – Annual Conference 2024
Register for the Irish Society of Inherited Metabolic Disorders (ISIMD) Annual Conference 2024. ‘Inherited Metabolic Disorders through the Life Cycle’ The conference is taking place on Friday, 19...
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Online Workshop: The Extended Neonatal Screening (ENS): Multidisciplinary...
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...
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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...
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Patient Journey on PDH Deficiency
Our PM-MD subnetwork has collaboratively written a Patient Journey for Pyruvate dehydrogenase (PDH) deficiency together with the Freya Foundation. PDH Deficiency is a rare neurodegenerative disorder...
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