Metabolic pathways of intellectual disability and autism – Summer School

Education, Education for Professionals, Events

As part of the Master’s Degree in Neurometabolism and Cell Biology for Clinicians, the summer school “Metabolic pathways of intellectual disability and autism” will take place on 3 July at the Sant Joan de Déu Barcelona Hospital. Each year, during the master’s summer school, a symposium is held on a relevant topic explored from a neurometabolic […]

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2nd Patient Meeting & Scientific Conference – CDG at the Children’s Memorial Health Institute (CMHI)

Events, News, News for Patients

“CDG at the CMHI” is a two-day event bringing together the scientific community, clinicians, patients, and their families, which will take place on May 29–30, 2026, at the Children’s Memorial Health Institute (CMHI) in Warsaw, Poland. The first day of the event is dedicated to lectures and expert discussions on the diagnosis, symptoms, and modern treatment

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Upcoming course: Ins and Outs of Newborn Screening

Education, Education for Professionals, Events

“Ins and Outs of Newborn Screening” is the title of the upcoming in-person course organised by the Recordati Rare Diseases Foundation. The course will take place in Amsterdam on 12-14 October 2026. Since the introduction of newborn screening (NBS) for phenylketonuria in the 1960’s, NBS programmes have significantly expanded, aided by new and improved technologies that

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18th International MPS 2026 Symposium & MPS MasterClass

Uncategorized, Education, Education for Patients, Education for Professionals, Events, News

The 18th International Symposium on Mucopolysaccharidoses and Related Lysosomal Diseases will take place on June 4-7, 2026, in Florence, Italy at Palazzo Affari and Palazzo dei Congressi. This global event will reflect on the last 20 years of progress made in Mucopolysaccharidoses (MPSs) and set sights on the next 20 years of innovation, advocacy, and collaboration.

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Brain Metabolism Dialogues webinar: Mechanisms of lipid transport in cells

Events, Education, Education for Professionals

Eukaryotic cells produce more than 1,000 different lipid species that help regulate the properties of organelle membranes, control signalling, and store energy. However, studying the biological functions of individual lipids has been challenging due to a lack of adequate methods for visualising their intracellular localisation, transport between organelles, and interactions with proteins. This Brain Metabolism Dialogues

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Upcoming Webinar – Early Diagnosis of Menkes Disease

Events, Education, Education for Patients, Education for Professionals

The upcoming PTEP webinar titled “Early Diagnosis of Menkes Disease” is scheduled for May 7 at 17:00 CEST. This webinar, hosted by MetabERN in collaboration with Menkes International Association, aims to provide a comprehensive overview of the critical importance of early diagnosis in Menkes Disease. This rare and severe metabolic disorder affects copper transport in the

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National meeting adult metabolic medicine

3rd National Meeting on Hereditary Metabolic Diseases in Adulthood

Events, Education, Education for Professionals

The third Italian “National Meeting on Hereditary Metabolic Diseases in Adulthood” will take place in Mestre, on 8 May 2026. The meeting is organised by the SIMMESN (Italian Society for the Study of Hereditary Metabolic Diseases and Newborn Screening) Working Group on adult metabolic medicine, in collaboration with MetabERN. This meeting represents a crucial opportunity to

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high-level conference: Patients’ rights on cross-border healthcare and the European Reference Networks

Events, Networks, News, News for Patients

The hybrid high-level conference on “Patients’ rights on cross-border healthcare and the European Reference Networks” will take place on 26 March 2026. This high-level conference will focus on the EU’s achievements in making cross-border healthcare more accessible, as well as at the barriers to making it more widely known and used. The European Commissioner for Health

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23rd Postgraduate Course on Lysosomal Storage Disorders

Events, Education, Education for Professionals

The 23rd Postgraduate Course on Lysosomal Storage Disorders will take place from 10 to 13 June 2026 in Nierstein, Germany. The course, which has a long-standing tradition, is organised by the Department of Paediatric and Adolescent Medicine at the University Medical Center Mainz. It offers a comprehensive exploration of lysosomal storage disorders, facilitated by experts in the field. Participants will engage

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SIMMESN & MetabERN Collaborative Success: Survey Results on Diagnostic and Monitoring Activities for Patients with Metabolic Disorders are Available

News, Events, Networks, News for Patients

We are proud to share the results from a crucial survey on diagnostic and monitoring activities for patients with metabolic disorders, a collaborative effort between Società Italiana per lo Studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale (SIMMESN) and MetabERN Italy, led by Prof Carlo Dionisi Vici (Bambino Gesù Children Hospital, Rome, Italy). This initiative

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Webinar: Young Patient Advocacy – A Call to Action for Transition!

Events, Education, Education for Patients, Education for Professionals

MetabERN in collaboration with the Greek patient organization, Krikos Zois, will be hosting a webinar on Young Patient Advocacy and Transition on 19 March at 17:00 Central European Time (CET). This session as part of the Patient Therapeutic Education Programme (PTEP) is designed for patients, patient representatives and healthcare professionals involved in the study and care of

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Webinar – Childhood hypoglycemia: from International Recommendations to clinical practice

Education, Education for Professionals, Events

This session is scheduled for March 5th at 16:00 CET and focuses on presenting the International Recommendations on the evaluation and management of persistent hypoglycemia in neonates, infants, and children. As part of a national inter-ERN collaboration, this webinar will also be aimed primarily at the Italian MetabERN and Endo-ERN centers. The session will be held

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