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 »
News
Gyrate Atrophy of the Choroid and Retina – International hybrid symposium
Amsterdam UMC hosts a hybrid symposium on gyrate atrophy, bringing together experts and families for research updates and discussion.
Gyrate Atrophy of the Choroid and Retina – International hybrid symposium Read More »
Postgraduate Course on Lysosomal Storage Disorders in Nierstein
Young healthcare professionals can enhance their knowledge of rare metabolic diseases at this interactive course in Nierstein, Germany.
Postgraduate Course on Lysosomal Storage Disorders in Nierstein 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 »
EJP RD workshop – The Blood-Brain Barrier: current research and novel therapeutic crossing approaches
Padua University hosts a scientific workshop exploring blood-brain barrier research and novel therapeutic strategies in rare diseases.
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.
Rare disease education in Europe – read the new publication
Leading experts publish a position paper highlighting the urgent need for improved rare disease education across European healthcare.
Rare disease education in Europe – read the new publication Read More »
Rare Diseases events under the Czech EU Council Presidency
Two key events under the Czech EU Presidency address newborn screening and policy framework development for rare disease management.
Rare Diseases events under the Czech EU Council Presidency 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 »
EJP Research Mobility Fellowship is now open
Research fellowship opportunity offers international training stays for PhD students, postdocs and medical doctors in rare disease research.
EJP Research Mobility Fellowship is now open 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 »
IRDiRC Diagnostic Scientific Committee Nomination Call
The International Rare Diseases Research Consortium invites experts to join its Diagnostic Committee for advancing rare disease research.
IRDiRC Diagnostic Scientific Committee Nomination Call Read More »
