Enhancing the Quality of Life of Persons Affected by Mucopolysaccharide Across Europe. By taking a multidisciplinary healthcare team approach we can better understand how to work with colleagues to support patients with MPS with their everyday healthcare needs, as well as by having a better understanding of the latest treatment options.
May 16th is the World Congenital Disorders of Glycosylation (CDG) Day. The worldwide CDG community joins efforts around this day to put together global awareness and education.
Enthusiastic and ambitious Assistant Professor need at Radboud UMC to perform preclinical therapeutic studies for inherited neurometabolic diseases.
Due to the evolving public health risk associated with the worldwide outbreak of the Coronavirus, we regret to inform you that we have decided to postpone to a new date the Annual MetabERN Board meeting planned for April 2nd-4th, 2020 at the Mercure Hotel Frankfurt Airport.
In the framework of the EJP-RD project (European Joint Programme on Rare Diseases), there are two calls for funding opened on 3 February: 1. Research Mobility Fellowships and 2. Research Training Workshops Target group (persons affiliated to ERN Full Members or Affiliated Partners) : 1. PhD students and young Medical Doctors (having finished their first […]
Thus far 11 members of MetabERN and one HCP which is not part of MetabERN have joined the project and more than 500 patient records have been added to the registry (see directly on the homepage of the registry: https://www.u-imd-registry.org/). While this is a great success, U-IMD is still in need of wider participation of the ERN to reach all of its aims.
Rare Disease Day 2020 takes place on the last day of February. This year is the 13th edition of the international day of rare disease awareness, and highlights that 'Rare is many, rare is strong and rare is proud'. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.
A team of MetabERN members has written a publication in the Orphanet Journal of Rare Diseases (OJRD) titled “Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicines Agency (EMA) for hereditary metabolic diseases in the MetabERN network”. The European Medicine Agency granted marketing approval to 164 orphan medicinal […]
Since the end of 2019, MetabERN has 9 new Healthcare Providers from 5 different countries that are Affiliated Partners (APs) to our network. They are bringing the total number of HCPs that are involved in MetabERN to 78 from 23 EU members states. The names and contact details of these HCPs can be found on this page of this website
Patient Journeys “I will not be ashamed to say ‘I don’t know’, nor will I fail to call in my colleagues…” But what if there are no other healthcare...