Highlights from Our Impactful Month of Collaborations and Meetings

The last couple of months were an eventful and enriching time for our team as we participated in three significant meetings that brought together professionals dedicated to improving care for patients with inherited metabolic disorders (IMDs). Each meeting provided a unique opportunity to engage with experts and patient representatives, share knowledge, and discuss critical topics […]

Highlights from Our Impactful Month of Collaborations and Meetings Read More »

Join the 2025 ERNDIM-EQA Schemes: Registration Now Open

News, Networks

Healthcare professionals are invited to register for the 2025 ERNDIM External Quality Assurance schemes to ensure high standards in metabolic diagnostics.

Join the 2025 ERNDIM-EQA Schemes: Registration Now Open Read More »

DeCODe Project Kick-Off: supporting Paediatric and Orphan Device Development

News, Networks, Press Releases

The DECODE Project aims to improve the diagnosis of inherited metabolic disorders through collaborative research and innovative methodologies.

DeCODe Project Kick-Off: supporting Paediatric and Orphan Device Development Read More »

International Neonatal Screening Day (INSD) / 28 JUNE

News, Events, Networks

Celebrating advancements in neonatal screening on International Neonatal Screening Day 2024, emphasizing early detection of metabolic disorders.

International Neonatal Screening Day (INSD) / 28 JUNE Read More »

ERICA 4th General Assembly & ERN Research Conference

News, Events, Networks, Other

MetabERN contributes to the ERICA General Assembly, collaborating with European Reference Networks to enhance rare disease research.

ERICA 4th General Assembly & ERN Research Conference Read More »

Job opening: Medical Writer / Research Facilitator

News, Networks, Other

The Regional Coordinating Centre for Rare Diseases of ASU FC seeks a Medical Writer to support MetabERN’s research promotion activities in Italy.

Job opening: Medical Writer / Research Facilitator Read More »

Patient Journey on PDH Deficiency

News, Education, Networks, News for Patients

A comprehensive guide for PDH Deficiency patients covering symptoms, diagnosis, treatment and life transitions, available in multiple European languages.

Patient Journey on PDH Deficiency Read More »

Irish Society of Inherited Metabolic Disorders (ISIMD) – Annual Conference 2024

News, Events, Networks

The Irish Society of Inherited Metabolic Disorders hosts its annual conference at the Gresham Hotel Dublin with virtual participation available.

Irish Society of Inherited Metabolic Disorders (ISIMD) – Annual Conference 2024 Read More »

EJP RD Final Conference / 27-28 May 2024

News, Events, Networks

The European Joint Programme on Rare Diseases concludes with a hybrid conference in Bari, bringing together experts to explore its lasting impact.

EJP RD Final Conference / 27-28 May 2024 Read More »

Secondo incontro nazionale sulle malattie metaboliche

Second Italian National Meeting on Rare Inherited Metabolic Diseases in Adults

News, Education, Events, Networks

A national training event in Florence for young professionals focusing on diagnosis and management of Inherited Metabolic Diseases in adult patients.

Second Italian National Meeting on Rare Inherited Metabolic Diseases in Adults Read More »

Questionnaire on the Treatment of Primary Mitochondrial Disorders 1

Questionnaire on the Treatment of Primary Mitochondrial Disorders with Vitamins and Cofactors

News, Networks, Other

MetabERN launches a worldwide survey for PMD specialists to document vitamin and cofactor treatments, aiming to develop standardized recommendations.

Questionnaire on the Treatment of Primary Mitochondrial Disorders with Vitamins and Cofactors Read More »

Positive Results for MetabERN and ASUFC in the Five-Year Evaluation Process of European Reference Networks (ERN)

News, Networks, Press Releases

The European Reference Network for Rare Metabolic Diseases and its coordinating centre receive outstanding results in the ERN five-year evaluation process.

Positive Results for MetabERN and ASUFC in the Five-Year Evaluation Process of European Reference Networks (ERN) Read More »

XVI International Glycogen Storage Disease (GSD) Conference

Rare disease, chronic pain and mental health: a patient’s story

ISIMD Annual Conference 2025

Highlights from Our Impactful Month of Collaborations and Meetings

Join the 2025 ERNDIM-EQA Schemes: Registration Now Open

DeCODe Project Kick-Off: supporting Paediatric and Orphan Device Development

International Neonatal Screening Day (INSD) / 28 JUNE

ERICA 4th General Assembly & ERN Research Conference

Job opening: Medical Writer / Research Facilitator

Patient Journey on PDH Deficiency

Irish Society of Inherited Metabolic Disorders (ISIMD) – Annual Conference 2024

EJP RD Final Conference / 27-28 May 2024

Second Italian National Meeting on Rare Inherited Metabolic Diseases in Adults

Questionnaire on the Treatment of Primary Mitochondrial Disorders with Vitamins and Cofactors

Positive Results for MetabERN and ASUFC in the Five-Year Evaluation Process of European Reference Networks (ERN)

XVI International Glycogen Storage Disease (GSD) Conference

Rare disease, chronic pain and mental health: a patient’s story

ISIMD Annual Conference 2025

Subscribe To Our Newsletter

MetabERN