Roberto Giugliani is a Medical Doctor, with specialization in Medical Genetics. He obtained his MD degree at UFRGS, in Porto Alegre, Brazil, the PhD degree at USP, in Ribeirão Preto, Brazil, and had post-doctoral trainings in London, Genoa, Paris, Zurich, Oakland, Sydney and Tokyo. He is Professor of the Department of Genetics at UFRGS, and Coordinator of the National Institute of Population Medical Genetics (INAGEMP). He founded the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, where he is still an active member. He acted as President of the Brazilian Society of Medical Genetics (SBGM), of the Latin American Network of Human Genetics (RELAGH), and of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening (SLEIMPN), and was Director of the WHO Collaborating Center for the Development of Genetic Services. He currently is Researcher Level I A (top) of the Brazilian Research Council (CNPq), member of 11 scientific societies (including the Brazilian Academy of Sciences) and Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening (JIEMS, official journal of SLEIMPN). His main research interest is concentrated in the field of inborn errors of metabolism, particularly the lysosomal disorders, and has over 450 papers published in peer-reviewed scientific journals.