Research News: Vascular Anomalies Working Group (VASCA WG) Collaborative Publication
New research news article!??? This publication, co-authored by members of our vascular anomalies working Group (VASCA WG) describes the finding of four distinct mosaic RAS1 mutations in four patients with a classical phenotype of capillary malformation-arteriovenous malformation (CM-AVM), that previously tested negative for mutations in the RAS1 or EPHB4 genes (the causal genes of CM-AVM)! Read it here: https://vascern.eu/research-news-vascular-anomalies-working-group-vasca-wg-collaborative-publication/ VASCAPA.asbl Hevas Bundesverband Angeborene Gefäßfehlbildungen e.V. ... See more
EJP RD is co-organising a meeting, along with the European Rare Disease Research Coordination and Support Action consortium (ERICA) and the Joint Research Centre (JRC), on Domain specific Common Data Elements (DCDEs) Curation targeted towards clinicians and people with a medical background to join.The online meeting will take place on December 9th, 2021 from 16.00 – 17.00 CET.In this meeting, the organisers will begin to curate the list of Domain specific Common Data Elements (DCDEs) compiled by the EJP RD FAIRification stewards from the data dictionaries provided by the ERN registries. The aim of the DCDEs is to be able to share domain specific data between ERNs, data that is not currently covered by the Common Data Elements (CDEs).More information and registration here: https://erica-rd.eu/event/domain-specific-common-data-elements-dcdes-curation/