MetabERN supports Rare Disease Day 2024
The MetabERN patient community shares personal stories and experiences through video messages in support of the international Rare Disease Day 2024.
MetabERN supports Rare Disease Day 2024 Read More »
News for Patients
20th Annual WORLDSymposium – February 4-9, 2024
The annual scientific meeting in San Diego brings together global experts in lysosomal diseases to share advances in research and clinical developments.
20th Annual WORLDSymposium – February 4-9, 2024 Read More »
Call on the EU institutions and EU Member States’ governments to stand by the European Reference Networks
European Reference Networks coordinators and patient groups address EU leadership to ensure continued support for rare disease healthcare across Europe.
Swedish SLOS Conference – October 2, 2023
A collaborative conference on Smith-Lemli-Opitz syndrome in Gothenburg brings together families and medical professionals with both onsite and online access.
Swedish SLOS Conference – October 2, 2023 Read More »
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 excellent occasion for patients, clinicians, and researchers for sharing knowledge and new ideas on brain metabolism as a transversal approach for
Brain Metabolism Workshop – 6-7 July 2023 Read More »
6th World Conference on CDG – 21-23 July 2023
Global experts and families gather in Portugal to discuss advances in Congenital Disorders of Glycosylation treatment and care.
6th World Conference on CDG – 21-23 July 2023 Read More »
2023 CTX International Scientific Meeting in Jerusalem
International experts gather in Jerusalem to advance research and clinical collaborations in Cerebrotendinous Xanthomatosis.
2023 CTX International Scientific Meeting in Jerusalem Read More »
EVALUATING THE DIRECT AND INDIRECT COSTS OF FABRY DISEASE IN ITALY
The Italian Anderson-Fabry Association commissioned a survey by C.R.E.A. Sanità in 2018 to evaluate various socio-economic aspects affecting the families and patients living with Fabry disease, such as the quality of life, methods of treatment, support from the National Health Service, and the costs related to the treatment of the disease. 106 patients with a confirmed diagnosis
EVALUATING THE DIRECT AND INDIRECT COSTS OF FABRY DISEASE IN ITALY Read More »
Patient representatives for Smith-Lemli-Opitz syndrome are looking for European families
A new research project explores Smith-Lemli-Opitz syndrome’s lifelong impact, inviting European families to share their experiences.
Pregnancy and Family Planning in rare diseases: a survey for patients and clinicians
MetabERN’s European survey on pregnancy and family planning for rare disease patients and clinicians aims to improve healthcare standards.
Pregnancy and Family Planning in rare diseases: a survey for patients and clinicians Read More »
Prof. Maurizio Scarpa in the AIAF IN CONNESSIONE meeting
Prof. Scarpa discussed COVID-19 vaccines and ERN recommendations for Lysosomal patients at the AIAF IN CONNESSIONE meeting.
Prof. Maurizio Scarpa in the AIAF IN CONNESSIONE meeting Read More »
EJP RD – Expression of interest to participate in the first online paediatric expert patients training workshop
Young rare disease patients (12-18) can apply for an EJP RD training on research and advocacy. Applications close on 30 October 2021.
