Dr. Roberto Giugliani, MD, PhD, is a medical geneticist with specialization in inherited metabolic diseases. He is Full Professor at the Department of Genetics of the Federal University of Rio Grande do Sul, and active member of the Medical Genetics Service of Hospital de Clinicas, in Porto Alegre, Brazil. He is also Coordinator of the Brazilian National Institute of Population Medical Genetics (INAGEMP), Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening, Chairman of the Latin American School of Human and Medical Genetics (ELAG), Member of Brazilian Academy of Sciences and WHO Expert Advisor. He is past President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN), the Latin American Network of Human Genetics (RELAGH), and the Brazilian Society of Medical Genetics and Genomics (SBGM). Prof. Giugliani’s main interests are concentrated in screening, diagnosis, and of inborn errors of metabolism, particularly of lysosomal storage diseases, being author of more than 450 scientific papers..