CPMS Success Stories – Our Metabolic team from the University Hospital of Santiago de Compostela
University Hospital of Santiago de Compostela demonstrates the effective use of CPMS platform for rare metabolic disease management.
Networks
EJP RD & ERICA meeting – Domain specific Common Data Elements (DCDEs) Curation
An online meeting on DCDEs curation for clinicians and medical professionals will take place on 9 December 2021 at 16:00 CET.
EJP RD & ERICA meeting – Domain specific Common Data Elements (DCDEs) Curation Read More »
“ERNs towards integration” – Online Italian event for the ERN community
An Italian online event on 30 Nov 2021 will explore the role of ERNs in rare disease care, research, and patient involvement.
“ERNs towards integration” – Online Italian event for the ERN community Read More »
11th National Congress of the Italian Society for the Study of Hereditary Metabolic Diseases and Newborn Screening
The 11th SIMMESN Congress will be held in Bologna from 2 to 4 Dec 2021, focusing on metabolic diseases and newborn screening.
Metabern & ISNS meeting – Moving towards NBS as a system: Setting out the roadmap
Experts and patient representatives discussed newborn screening registries, case definitions, and a roadmap for an equitable NBS system.
Metabern & ISNS meeting – Moving towards NBS as a system: Setting out the roadmap Read More »
Drug development and how best to work with specialised Rare Disease networks – webinar
A webinar on 9 Nov will explore drug development and collaboration with Rare Disease networks to improve patient care.
Drug development and how best to work with specialised Rare Disease networks – webinar Read More »
c4c – paediatric clinical trials awareness campaign
c4c launches a European campaign to raise awareness of paediatric clinical trials. Take the survey and share your opinion.
c4c – paediatric clinical trials awareness campaign Read More »
TREAT-NMD DMD Early Diagnosis Training Seminar
A free online seminar for paediatricians on early DMD diagnosis will launch in Spring 2022. Take the survey and register interest.
TREAT-NMD DMD Early Diagnosis Training Seminar Read More »
Cystinosis European Network
A collaborative network of European cystinosis support groups working to improve care and research for patients since 2016.
Cystinosis European Network Read More »
CDG Patient Groups and Advocates
A comprehensive overview of CDG patient advocacy groups and representatives working to advance awareness, research and treatment options.
CDG Patient Groups and Advocates Read More »
CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies- PPAIN)
An international network uniting professionals and patient associations to advance research in Congenital Disorders of Glycosylation.
Inpda: International Niemann–Pick Disease Alliance
A worldwide alliance of non-profit organizations providing support and advancing research for Niemann-Pick Disease communities.
Inpda: International Niemann–Pick Disease Alliance Read More »
