Ilaria Meloni

Ilaria Meloni graduated in Biological Sciences in 1999 at the University of Siena, where she subsequently received her PhD in"Mechanisms of Neurodegeneration, Neuroprotection and Neuroregeneration in rare neurological diseases" in 2004. In 2007 she became Specialist in Medical Genetics. After a few short experiences abroad, she is currently Associate professor at the University of Siena in the Laboratory of Medical Genetics. Her main research interest is the molecular basis of X-linked intellectual disability; in this context, in 2002, she identified ACSL4, a new causative gene for X-linked intellectual disability. Subsequently, she focused on Rett Syndrome. In order to establish an innovative human cellular model for the study of the mechanisms underlying this pathology, she gained experience in genetic reprogramming and generated induced pluripotent stem cells (iPSCs = induced Pluripotent Stem Cells) from patients with mutations in the three genes associated with Rett syndrome: MECP2, CDKL5 and FOXG1. In recent years, she has used these cells to study the molecular mechanisms of disease, comparing neurons differentiated from cells with mutations in the 3 genes in order to identify possible common alterations. She is currently using this cellular model to evaluate the feasibility of gene editing via CRISPR/Cas9 as an approach for the correction of pathogenic mutations in genes associated with Rett syndrome. Furthermore, she collaborated for several years to the management of samples fl ow in the Biobank maintained in the Medical Genetics laboratory, which is part of the Telethon Network of Genetic Biobanks (TNGB).