Francesca Mari graduated in Medicine in 2001 at the University of Siena. She obtained the title of PhD in Medical Genetics in 2006 at the University of Siena and the Specialty in Medical Genetics at the University of Florence in 2010. She has had research and clinical experiences abroad firstly at Memorial-Sloan-Kettering Cancer Center (directed by Prof. Pier Paolo Pandolfi) when she was attending the 3rd and 4th years of the Medical School, then in the Clinical Genetics Department at the s. Mary’s Hospital in Manchester in 2006 (Prof D. Donnai) and in the Centre for Pediatrics and Adolescent Medicine in Freiburg in 2008 (Prof. Andrea Superti-Furga). In 2007 she obtained joint title of Second level Master in Clinical Genetic from five different Italian Universities (Bologna, Genova, Padova, Roma and Siena).