Incontrare una malattia rara | Laura Mazzanti | TEDxBologna

Laura Mazzanti was born in Bologna. Professor at the University of Bologna. She is Associate Professor of Pediatrics (MED/38) and a University Researcher from 1980 to 2006. In 2000, she was a Visiting Scientist at the Center for Medical Genetics in the Department of Pediatrics at the University of Utah, Salt Lake City, USA. She established the Pediatric Rare Disease Center at the Sant'Orsola Polyclinic, organizing a multidisciplinary network of specialists for developmental patients in 2009. In 2011, it was recognized as a Hub Center of the Emilia-Romagna Region's 'Hub&Spoke' network for Congenital-Malformative Pediatric Rare Diseases. She is a member of the Regional Technical Group on Rare Diseases and the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), of which she was coordinator for the S. Orsola Hospital from its inception in 2016 to 2019. Her research focused on the study of growth and puberty later focused on children with rare diseases. She has published numerous scientific papers in international journals of clinical genetics and auxo-endocrinology. In 2003, she proposed to the scientific community a new clinical phenotype within the Noonan syndrome spectrum: "Noonan-like syndrome and LAH" (OMIM 607 721). A new genetic disorder for this condition was identified in 2009 and published in Nature Genetics 2009, for which the eponym "Mazzanti Syndrome" was proposed. Laura Mazzanti, born in Bologna, is a leading figure in Syndromology and Clinical Genetics at the national and international levels. She is Professor of Pediatrics at the University of Bologna. She is Associate Professor of Pediatrics (MED/38) and, from 1980 to 2006, a University Researcher. In 2000, she was a Visiting Scientist at the Center for Medical Genetics in the Department of Pediatrics at the University of Utah, Salt Lake City, USA. She established the Pediatric Rare Disease Center at the Sant'Orsola Polyclinic, organizing a multidisciplinary network of specialists for developmental patients in 2009. Her research focused on the study of growth and puberty has since extended to children with rare diseases. He proposed a new clinical phenotype within the Noonan syndrome spectrum to the scientific community: "Noonan-like syndrome and LAH" (OMIM 607 721) in 2003. A new genetic disorder was identified for this condition in 2009, published in Nature Genetics 2009, for which the eponym "Mazzanti Syndrome" was proposed. This talk was given at a TEDx event using the TED conference format but independently organized by a local community. Learn more at https://www.ted.com/tedx