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 »
Networks
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 »
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.
Patient representatives for Smith-Lemli-Opitz syndrome are looking for European families Read More »
MetabERN Board meeting in Prague, 13-15 October 2022
The MetabERN Board reunites in Prague for its first face-to-face meeting since the pandemic, discussing key developments in rare diseases.
MetabERN Board meeting in Prague, 13-15 October 2022 Read More »
First Italian National Meeting on Rare Inherited Metabolic Diseases in Adults
A landmark national meeting in Udine addresses the growing challenges of managing inherited metabolic diseases in the adult population.
First Italian National Meeting on Rare Inherited Metabolic Diseases in Adults Read More »
SSIEM Annual Symposium 2022
The SSIEM Annual Symposium 2022 will focus on metabolism and genetics, fostering discussions and networking in Freiburg from 30 August to 2 September.
SSIEM Annual Symposium 2022 Read More »
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 »
CPMS Success Stories – Our Metabolic team from the University Hospital of Santiago de Compostela
University Hospital of Santiago de Compostela demonstrates the effective use of CPMS platform for rare metabolic disease management.
EJP RD & ERICA meeting – Domain specific Common Data Elements (DCDEs) Curation
An online meeting on DCDEs curation for clinicians and medical professionals will take place on 9 December 2021 at 16:00 CET.
EJP RD & ERICA meeting – Domain specific Common Data Elements (DCDEs) Curation Read More »
“ERNs towards integration” – Online Italian event for the ERN community
An Italian online event on 30 Nov 2021 will explore the role of ERNs in rare disease care, research, and patient involvement.
“ERNs towards integration” – Online Italian event for the ERN community Read More »
11th National Congress of the Italian Society for the Study of Hereditary Metabolic Diseases and Newborn Screening
The 11th SIMMESN Congress will be held in Bologna from 2 to 4 Dec 2021, focusing on metabolic diseases and newborn screening.
Metabern & ISNS meeting – Moving towards NBS as a system: Setting out the roadmap
Experts and patient representatives discussed newborn screening registries, case definitions, and a roadmap for an equitable NBS system.
Metabern & ISNS meeting – Moving towards NBS as a system: Setting out the roadmap Read More »
