MELONI ILARIA

Ilaria Meloni graduated in Biological Sciences from the University of Siena, where she subsequently obtained a PhD in "Mechanisms of Neurodegeneration, Neuroprotection and Neurorepair in rare neurological diseases" and a Specialization in Medical Genetics. After some brief experiences abroad, she is currently Associate Professor at the University of Siena. Her main research interest is the molecular basis of X-linked intellectual disability; in this context, in 2002, she identified ACSL4, a new gene causing non-syndromic –linked intellectual disability. Subsequently, she began to focus on Rett Syndrome, which currently represents her main line of research. In order to establish an innovative human cellular model for the study of the mechanisms underlying this pathology, she acquired experience in genetic reprogramming, generating induced pluripotent stem cells (iPSCs = induced Pluripotent Stem Cells) from patients with mutations in the three genes associated with the syndrome Rect: MECP2, CDKL5 and FOXG1. In recent years, she has used these cells to study the molecular mechanisms of Rett syndrome, comparing neurons differentiated from cells mutated in the 3 genes in order to identify possible common alterations. She currently uses this cellular model to evaluate the applicability of gene editing via CRISPR/Cas9 as an approach for correcting pathogenic mutations in genes associated with Rett syndrome. Furthermore, for several years she has been responsible for managing the flow of samples from the Biobank maintained in her laboratory, which is part of the Telethon Network of Genetic Biobanks (TNGB). Her work has led to the publication of 81 scientific articles in international journals.