Roberto Giugliani is a full professor in the Department of Genetics at the Universidade Federal do Rio Grande do Sul (UFRGS). He holds MD, PhD, and MSc degrees and serves as a professor in the Postgraduate Program in Genetics and Molecular Biology at UFRGS. Giugliani founded the Medical Genetics Service at the Hospital de Clínicas de Porto Alegre, where he remains an active member, and he has also served as chief of that service. His academic appointments include roles at UFRGS and affiliations with the Medical Genetics Service at HCPA.
Giugliani’s research focuses on medical genetics, with particular emphasis on rare diseases, inborn errors of metabolism, and lysosomal storage disorders. He has supervised the training of over 100 master’s and doctoral students and has authored more than 500 publications. Among his honors are the Robert Guthrie Award in 2024 from the International Society for Neonatal Screening, the FAPERGS Prize Medal in 2007, and the Life for MPS Award. Giugliani is a researcher at the National Institute of Population Medical Genetics (INAGEMP) and has contributed to WHO collaborating centers and international initiatives in rare disease research and neonatal screening.