metab.ern-net.euMetabERN: European Refence Network for Hereditary Metabolic

Disorders CPMS | NEWSLETTER | ERN × Home The Network Who We Are Our Vision, Mission & Aim Structure & Governance Specialised Centres Coordinators Stakeholders & Supporters Informative Materials For Patients Patient Board Find a specialist centre Patient Organisations Patient Resources Cross-border Healthcare For Professionals Education Programme Continuous Monitoring System Evaluation Guidelines UIMD Registry Subnetworks Work Packages Transversal Activities CPMS Support Resources Activities Projects Publications News & Events News Events Education Programme My Courses Login Contact Us MENU Education on IMDs Diagnostic, Clinical and Therapeutic Programme (DCTEP) The first e-learning course developed by the MetabERN network and accredited by the European Accreditation Council for Continuing Medical Education (EACCME). Register for free In solidarity with Ukraine and the Ukrainian rare metabolic disease patients The current situation that continues to escalate in Ukraine is very concerning to MetabERN and the wider European rare metabolic disease community. MetabERN stands in solidarity with all Ukrainian citizens. Learn More MetabERN The European Reference Network for Rare Hereditary Metabolic Disorders The first most comprehensive, pan-metabolic, pan-European, patient-orientated platform ever conceived Learn More Patient Board Patient Organisations The MetabERN Patient Board represents the voice of patients affected by inherited metabolic disorders. With their experience they will help healthcare providers tailor medical advances to patients’ needs. Learn More Member Centres Specialised centres in the area of rare inherited metabolic disorders. MetabERN represents 78 nationally certified healthcare providers from 23 European Member States. These centres aim to deliver the best available care to patients affected by rare inherited metabolic disorders. Learn More Latest News Job opening: Medical Writer / Research Facilitator The Regional Coordinating Centre for Rare Diseases of Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Italy which is the Coordinating centre of the European Reference Network for the Rare Metabolic Disorders (MetabERN) is currently seeking a self-employed collaborator for the role of Medical Writer in healthcare and Research Facilitator to support the research promotion activities […] 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 associated with abnormal mitochondrial metabolism and characterised by a wide range of clinical signs with metabolic and neurological components. The sections of this Patient Journey describe the recognition of the first symptoms, […] 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 […] 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 […] 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 April, at the Gresham Hotel, Dublin. Virtual participation is also available. The deadline for abstract poster submission is 5 April. More information View the full programme Register here 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 community. This year, the MetabERN patient group shared their stories and experiences in a video message aimed at expressing support for Rare Disease Day 2024 and raising awareness of rare metabolic […] Search MetabERN subnetworks – Aminoacid and organic acids related disorders – Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism – Carbohydrate fatty acid oxidation and ketone bodies disorders – Lysosomal disorders – Peroxisomal and lipid related disorders – Congenital disorders of glycosylation and disorders of intracellular trafficking – Disorders of Neuromodulators and Small Molecules More Activities Publications and Guidelines Unified Registry for Inherited Metabolic Disorders Projects What is an ERN? European Reference Networks (ERN) help professionals and centres of expertise in different countries to share knowledge. ERNs apply EU criteria to tackle rare diseases requiring specialised care, serve as research and knowledge centres treating patients from other EU countries and ensure the availability of treatment facilities where necessary. What is MetabERN? MetabERN is a European non-profit network established by the EU to facilitate access to the best available care and address the needs across the border of all patients and their families affected by inherited metabolic rare diseases . MetabERN is driven by the principle of patient-centred care to provide its services, aiming to improve patients’ and families’ quality of life. MetabERN aims to connect the most specialised centres on inherited metabolic rare diseases to promote prevention, accelerate diagnosis, and improve care standards across Europe for patients living with inherited metabolic rare diseases. MetabERN is entirely led by patients and experts . By combining patient experience and expert knowledge from across the EU, we aim to capture the most innovative medical advances and tailor them to patients’ needs. Click to See Member Centres If you are a patient or a healthcare professional and you would like know more about how MetabERN can help you, get in touch with us filling the contact us form. Contact Us Diagnostic, Clinical & Education Programme The online course made by MetabERN members in collaboration with the Coordination Office is addressed to medical residents, graduate students, general practitioners, and various medical specialists . The overall objective of the programme is to create and train a new class of professionals with a scientific background and interest in Inherited Metabolic Diseases and to provide them with expert knowledge and practical experience in the phenotypic spectrum, diagnostic and clinic work-up, treatment and long-term management of these diseases. Disclaimer MetabERN is a European Reference Network (ERN) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit ec.europa.eu/health/ern The content on this website represents the views of the network and is its sole responsibility; it can in no way be taken to reflect the views of the European Commission or any other body of the European Union. For more information please contact Prof. Maurizio Scarpa, MD, PhD MetabERN Coordinator Newsletter Sign up to the MetabERN newsletter Search the website Copyright ©2017-2021 all rights reserved Previous Content Web by EFFIGE 2.0 To provide the best possible service, we use...