“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 […]
Upcoming course: Ins and Outs of Newborn Screening Read More »
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.
18th International MPS 2026 Symposium & MPS MasterClass Read More »
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
Brain Metabolism Dialogues webinar: Mechanisms of lipid transport in cells Read More »
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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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
3rd National Meeting on Hereditary Metabolic Diseases in Adulthood Read More »
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
23rd Postgraduate Course on Lysosomal Storage Disorders Read More »
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
Webinar: Young Patient Advocacy – A Call to Action for Transition! Read More »
Enrol in the online course “Essential biomarkers in IEM: basic course” provided by the SJD Education of the Sant Joan de Déu University Hospital in Barcelona, starting on 11 March 2026. The course is delivered as a series of six focused webinars, each centred on a key biochemical presentation. These sessions bring together leading international experts in
Essential biomarkers in IEM: basic course Read More »
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
A webinar on brain metabolism of Coenzyme Q, covering COQ2 deficiency and therapeutic strategies. Part of the Brain Metabolism Dialogues series.
Brain metabolism of CoQ, from basic science to clinical practice – Webinar Read More »
A MetabERN webinar on Smith-Lemli-Opitz syndrome featuring expert presentations and patient perspectives from the European SLOS Natural History project.
Webinar – Smith-Lemli-Opitz syndrome from a holistic family perspective Read More »
Apply for the MetabERN Exchange Programme. Short-term visits for IMD professionals at centres across Europe. Deadline: 31 Jan 2026.
The MetabERN Exchange Programme is here! Read More »
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