This Policy Roundtable, organised by the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (ESPKU), was hosted by MEPs Deirdre Clune (Ireland, EPP) and Nessa Childers (Ireland, S&D).
The EU legal framework for medicines for human use is intended to ensure a high level of public health protection and to promote the functioning of the internal market, and includes measures that encourage innovation.
The Romanian Foundation for Lysosomal Diseases (FRBL), founded in 1998 in Cluj-Napoca, has marked 20 years since its inception.
Patient-centered research tool to increase knowledge on immune system (dys)function among CDG children and adults - The Immunology and CDG Questionnaire (ImmunoCDGQ) for Patients & Caregivers.
Effective ways of Investing in Health, the Expert Panel will maintain a Hearing on the application of the ERN model in European cross-border healthcare cooperation outside the rare diseases area.
RD-Connect is an EU-funded integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Together with the ERN EURO-NMD, RD-Connect is organising a series of webinars aiming to train ERN members at all levels. The webinars will let you learn how the RD-Connect tools can help you in your everyday work.
Informative materials, where you will find out what we've achieved in the first year, what the plans are for the second year, and to gather some information about the ERN and MetabERN?
Prof Maurizio Scarpa (MetabERN Coordinator), Francjan van Spronsen, MetabERN Representative from Rijksuniversiteit Groningen (NL), and Lut de Baere responsible for the MetabERN Patients organisations management, have recently participated in the policy Round Table on Phenylketonuria (PKU)
We are glad to announce that our MetabERN Coordinator, Professor Maurizio Scarpa, has been recently invited to speak at an event that Genetic Alliance UK, the charity supporting all those affected by rare, genetic and undiagnosed conditions, hold on Monday 9 July.
A patient survey has been created to help understand what are patients' needs. The survey has been translated into 7 languages.