Francesca Ariani

Francesca Ariani graduated in Biological Sciences in 2001 at the University of Florence. She has a Ph.D. and a Specialization in Medical Genetics at the University of Siena. She is currently Associate Professor of Medical Genetics at the School of Medicine of the University of Siena. From 2014 to 2019, she was the Director of the I level Master Course in Genetic-Molecular Pathology at the University of Siena. From 2020 she is the Coordinator of the Doctorate in Genetics, Oncology and Clinical Medicine (GenOMeC), a regional network between the three Tuscan Universities (University of Siena, Florence and Pisa). Her research has been focused on the study of the molecular mechanisms underlying rare diseases, in particular Rett syndrome, Retinoblastoma and Alport syndrome. She identified two new genes associated with Rett syndrome spectrum and she contributed to characterize disease mechanisms through the employment of “genetic reprogramming”, an innovative process that allows to obtain Induced pluripotent stem (iPS) cells from patients fibroblasts and differentiate them in any cellular type, including neurons. In the last years, she has also gained expertise in Next Generation Sequencing (NGS) technology and analyzing the “exome” (coding portion of the genome) she identified the genetic causes of conditions with intellectual disability. Concerning retinoblastoma, she identified molecular events that accompany tumor progression and detected mosaicism in a significant fraction of sporadic cases, with important implications with respect to genetic counselling and family care. Research activities of Francesca Ariani are substantiated by 66 original publications on international journals with a total IF of 230.089. She is the author of 5 reviews made by request and 2 book chapters. She has a H-index of 27, with a number of total citations of 2.329.