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Annalisa Madeo
Gaslini Institute - Genoa
Dr Annalisa Madeo is a paediatrician at Gaslini Institute in Genoa. Since 2012, she has been actively involved in several international clinical trials on orphan drugs for the treatment of rare diseases within the Unit of Rare Diseases at Gaslini Institute. In 2015-2016, she continued her training with a fellowship at the Service de Maladies Héréditaires du Métabolisme at Hôpital Universitaire Necker-Enfants Malades in Paris, where she earned the Diplôme Inter-Universitaire (DIU) in Inborn Metabolic Diseases from Paris Descartes University in 2017. She later completed her PhD in Paediatric Sciences – Genetics at University of Genoa in 2021.
Her current clinical and research activity within the Paediatric Gastroenterology and Digestive Endoscopy Unit at Gaslini Institute primarily focuses on inborn metabolic diseases – particularly lysosomal storage disorders and carbohydrate metabolism defects – as well as liver diseases, including Wilson disease, progressive familial intrahepatic cholestasis (PFIC) and biliary atresia. Dr Madeo actively collaborates with multiple patient associations and serves as a member of the Scientific Committee of the Italian Lesch-Nyhan Disease Association.
