The redesigned MetabERN website is online!
MetabERN’s new website offers improved navigation, patient resources, and updated content for the rare metabolic disease community.
The redesigned MetabERN website is online! Read More »
Changing the clinical picture of MPS – Preceptorship medical course (in-person)
An in-person course on MPS for clinicians and nurses will be held in Manchester on 11-12 Nov 2021. Limited places available.
Changing the clinical picture of MPS – Preceptorship medical course (in-person) Read More »
Achieving Equity and Innovation in Newborn Screening and in Familial Hypercholesterolemia Paediatric Screening across Europe
A Slovenian Presidency event on 11 Oct 2021 will explore equity and innovation in newborn and FH paediatric screening across Europe.
New study in patients with Smith-Lemli-Opitz syndrome
A study published in Biomolecules explores the biochemical and clinical effects of Vitamin E in Hungarian SLOS patients.
New study in patients with Smith-Lemli-Opitz syndrome Read More »
Medics4RareDiseases and MetabERN to announce a mutual collaboration
Some exciting news to share! MetabERN and Medics4RareDiseases are eager to combine their efforts, establishing future collaboration.
Medics4RareDiseases and MetabERN to announce a mutual collaboration Read More »
5th International Symposium on UCD | 22-24 September 2021
The 5th International Symposium on UCD will take place as a virtual satellite to the International Congress on Inborn Errors of Metabolism (ICIEM).
5th International Symposium on UCD | 22-24 September 2021 Read More »
ERN Exchange programme – knowledge sharing among ERN members
The programme is beginning. The ERN Exchange Programme aims at harmonising specific knowledge within the ERNs and reducing gaps in expertise.
ERN Exchange programme – knowledge sharing among ERN members Read More »
EMERGENCY PROTOCOLS FOR PATIENTS WITH FAOD OR GSD | 22 JUNE 2021
An emergency letter and knowing how to use it can prevent life-threatening situations and will optimize communications between parents and doctors.
EMERGENCY PROTOCOLS FOR PATIENTS WITH FAOD OR GSD | 22 JUNE 2021 Read More »
European Reference Networks: challenges and opportunities
European Reference Networks (ERNs) were founded on the principle that many rare disease (RD) issues are pan-European and any single Member State cannot solve them alone.
European Reference Networks: challenges and opportunities Read More »
Generic Emergency Protocol: Feedback Needed
Having an emergency letter and knowing how to use it can prevent life-threatening situations and will optimise communications between parents and doctors.
Generic Emergency Protocol: Feedback Needed Read More »
Training Course to Foster Solutions of Undiagnosed Rare Disease Cases
Istituto Superiore di Sanità (ISS), in collaboration with EJP RD, have organised an international training course regarding undiagnosed rare diseases. 2 – 14 April 2021. This workshop is online with a web-conferencing format.
Training Course to Foster Solutions of Undiagnosed Rare Disease Cases Read More »
The EJPRD Rare Disease Day Video is online!
EJPRD Rare Disease Day video: contributors answer the web’s most search questions about rare diseases in a new video (subtitles available).
The EJPRD Rare Disease Day Video is online! Read More »
