Research News: New Heritable Thoracic Aortic Diseases Working Group (HTAD WG) Collaborative Publication
Research News: New collaborative publication, co-authored by members of the Heritable Thoracic Aortic Diseases Working Group (HTAD WG), is now available! This consensus document aims to provide genetic counselling/testing guidance to healthcare providers involved in the follow-up of adults with congenital heart defects and/or hereditary aortic diseases (including Marfan syndrome). ?➡ Read it here: https://vascern.eu/research-news-new-heritable-thoracic-aortic-diseases-working-group-htad-wg-collaborative-publication/ #marfan European Society of Cardiology ESHG - European Society of Human Genetics ... 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/