Research and Development Working Group (WG-RD)

Chair
Laurent Gouya
APHP/Université de Paris

Members
Antonio Fontanellas
CIMA Universidad de Navarra
Elena Di Pierro
Fondazione IRCCS Ca' Granda ; Ospedale Maggiore Policlinico
Jasmin Barman-Aksözen
Triemli City Hospital, University of Zürich
Emmanuel Richard
CHU de Bordeaux/Université de Bordeaux

Key objectives:

  • Facilitate research activity from bench to clinic
  • Develop process for supporting clinical trials in all forms
  • Foster and encourage research collaboration between EPNET members
  • New biomarkers
  • Observe different calls for Rare Disorders, especially Horizon Europe - the next research and innovation framework program
  • Updating information on research and development EPNET website, including lay summaries for patients

Current projects:

  • AIP-gene, a multiomic approach to decipher AIP clinical variability and PBGD mutations penetrance