The first survey to reflect on the social and medical needs of rare metabolic patients and families in Europe
A MetabERN survey highlights the social and medical challenges faced by IMD patients and caregivers across 25 European countries.
News
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 »
IEMbase mobile app version 1.0 is live
The IEMbase announced the creation of the IEMbase mobile app version 1.0, which is now available for Android and Apple devices.
IEMbase mobile app version 1.0 is live 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 »
10 Principles for Greater Patient Empowerment
Weber Shandwick, in collaboration with EU patient groups, trade associations and policy-makers has produced a set of 10 principles and actions.
10 Principles for Greater Patient Empowerment Read More »
‘Un Amico Raro’ – An animated cartoon to explain the Anderson-Fabry disease
‘Un Amico Raro’, the special episode of the animated tv series “Leo da Vinci” broadcast on Rai Ragazzi, depicts the story of a young kid living in the 16th century suffering from Anderson-Fabry disease.
‘Un Amico Raro’ – An animated cartoon to explain the Anderson-Fabry disease 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 »
ERN Research Mobility Fellowship | 15 March 2021
EJP RD pre-announced the upcoming opening of the call for Research Mobility Fellowships on the 15th of March, which aims to support PhD students, Postdocs and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.
ERN Research Mobility Fellowship | 15 March 2021 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 »
