CDG & Allies—Professionals and Patient Associations International Network ; UCIBIO – Applied Molecular Biosciences Unit, Associate Laboratory i4HB - Institute for Health and Bioeconomy; Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, Caparica, Portugal.
Research Interests: Patient centric research for therapy development for rare diseases
Chair of International Cathepsin-C Consortium (ICat-CC), INSERM UMR-1100, Centre d’Etude des Pathologies Respiratoires, Université de Tours, Tours, France.
Research Interests: Physiopathological functions of neutrophil serine proteinases
Department of Rehabilitation Medicine, Medical School, University of Minnesota, MN, USA.
Research Interests: Rare disease (maglinant osteopetrosis & osteopetrorickets; robin sequence; kabuki syndrome), TMJ DJD, biomarker for early diagnosis, pain