Professor of Paediatrics at the Dept. Of Women’s and Children’s Health, University of Padova, Italy. Director, Coordinating Center for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy. Coordinator of MetabERN.

Pediatrician with certified specializations in Pediatric Metabolic Medicine and Pediatric Neurology and Professor in Translational Metabolic Medicine and Pediatric Neurology is Head of the Division of Pediatric Neurology and Metabolic Medicine at the University Children’s Hospital in Heidelberg, Germany.

Professor of Paediatric Metabolic Medicine. Genetics & Genomic Medicine Dept, University College London, Great Ormond Street, Institute of Child Health, UK.

Institute of Medical Genetics and Applied Genomics and and Centre for Rare Diseases, University of Tübingen, Coordinator for the European Reference Network for Rare Neurological Diseases (ERN-RND)

Vice President UNIAMO Federazione Italiana Malattie Rare Onlus. Patient representative in scientific projects and activities: BBMRI Stakeholder Forum Patient and Citizens; Italian ELSI-BBMRI -Biobanking and Biomolecular Resources Research Infrastructure; Multi stakeholder working groups on good practice and privacy protection, informed consent and training initiatives.

Biologist with a Master’s Degree in Functional Genomics. Data Manager and Project Manager of European Projects at the Coordinating Center for Rare Diseases in the University Hospital of Udine.