Dr. Roberto Giugliani is Professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS), being the founder and still active member of the Medical Genetics Service of HCPA (University Hospital). He is co-founder of “Casa dos Raros”, the most comprehensive center for rare diseases in Brazil, Coordinator of the Brazilian Institute of Population Medical Genetics (INAGEMP), and Head of Rare Diseases at DASA Genomics. He is a MD specialized in clinical genetics, having obtained the MSc and PhD degrees at the University of Sao Paulo, and having had post-doctoral trainings in London, Genoa, Paris, Zurich, Oakland, Sydney, Tokyo, and Heidelberg. His main research interests are in the field of inborn errors of metabolism, particularly the lysosomal storage disorders. Prof. Giugliani is a member of 11 scientific societies, including the Brazilian Academy of Sciences. He participates in the Editorial Board of several international journals, being the Editor-in Chief of the Journal of Inborn Errors of Metabolism and Screening. He served as Director of the WHO Collaborating Centre for the Development of Medical Genetics Services in Latin America, from 2004 to 2018, and has been President of the Brazilian Society of Clinical Genetics, the Latin American Network of Human Genetics, and the Latin American Society of Inborn Errors of Metabolism and Screening. He is the chair of several regular educational activities, including the Latin American School of Human and Medical Genetics. He received a Medal from the Brazilian President for his contributions to science. He is Researcher 1A (top level) of the Brazilian Council for Development of Science and Technology (CNPq). He has been Principal Investigator in over 50 clinical trials, supervised the post-graduate studies of more than 100 MScs/PhDs, has addressed more than 800 lectures in national and international meetings, and is (co-)author of over 500 papers listed in PubMed.