Carolina Fischinger Moura de Souza has been working as a Medical Geneticist at the Hospital de Clinicas de Porto Alegre, Brazil since 2004. She currently treats patients with neurogenetic disorders and inborn errors of metabolism, including lysosomal storage disorders (specifically mucopolysaccharidosis [MPS]) and glycogen storage disorders. In her role, she supervises and coordinates the ambulatory care more than 200 patients with IEM. Obtaining her medical degree from the Federal University of Rio Grande do Sul, Brazil in 1996, Dr. Fischinger Moura de Souza went on to specialize in Medical Genetics and completed her PhD in Genetics and Molecular Biology in 2005. Hence, her expertise lie with medical genetics, biochemical genetics, and clinical pathology, and she specializes in inborn errors of metabolism. She has co-authored 40 articles over the last 5 years in the field of inborn errors of metabolism. This has included lysosomal and glycogen storage disorders, as well as neurogenetics. In addition, she has authored 11 book chapters. She is also a peer reviewer for journals focusing on pediatrics and rare diseases.
Dr. Fischinger Moura de Souza has been the President of the Medical Genetic Society for the last 2 years. She is also a member of the Society for the Study of Inborn Errors of Metabolism, the Brazilian Medical Genetic Society, and the Latin American Society of Innate Errors of Metabolism and Neonatal Research. Overall, this highlights her passion towards genetics and the treatment of patients with metabolic disorders. Disclosures: None declared