Roberto Giugliani

Recipient of the Robert Guthrie Award 2024

Dr. Roberto Giugliani is a Professor at the Postgraduate Program in Genetics and Molecular Biology of the Federal University of Rio Grande do Sul (UFRGS) and Member of the Medical Genetics Service of Hospital de Clinicas (HCPA), in Porto Alegre, Brazil. He is also Head of Rare Diseases at Dasa Genomics, and Executive Director of "Casa dos Raros", a center of excellence for rare diseases in Brazil.

He performed his clinical specialization in medical genetics and earned his MSc and PhD Degrees at the University of Sao Paulo (Brazil) and did post-doctoral trainings. in London, Genova, Paris, Zurich, Oakland, Sydney, Tokyo and Heidelberg. He is member of 13 scientific societies, including the Brazilian Academy of Sciences, He is past President of the Brazilian Society of Medical Genetics and Genomics and the Latin American Network of Human Genetics (RELAGH), and is the current vice-president of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening.

Dr. Giugliani's research interests are concentrated in the field of inborn errors of metabolism, particularly in lysosomal disorders and neonatal screening. He has supervised the post-graduate studies of more than 100 MSc/PhD graduates and is author of more than 600 papers indexed in PudMed.