MD-PhD, Full professor in Medical Genetics, leading one of the biggest Medical Genetics center in Italy at University Hospital in Siena offering genetic counselling, genetic test and gene editing for rare diseses and genetic cancers. Health Care Provider representative/subrepresentative of several European Reference Networks (ERNs) including ITHACA, ERKnet, PAEDCAN, EURObloodNet, EURACAN.

In the pre-genomic era, she contributed to map and cloning several genes including those of ocular albinism, FACL4 and other X-linked mental retardation genes. In the post-genomic era the reasearch focus was on microdeletion syndromes first and digenic diseases then. Since 2010 she started to model Rett syndrome spectrum (MECP2, CDKL5 and FOXG1) with iPSC-derived neurons. Since 2017 her reasearch interest is focused on gene editing using crispr systems and its translation to clinical practice. Currenly she is running four gene editing projects. Three are using Crispr/Cas9 and AAV system and are related to Rett syndrome (FOXG1 variant), Parkinson (LRRK2 and GBA) and Alport syndrome (COL4A5). One is using Crispr/Cpf1 and lentiviral vector and it is related to Chronic Lymphocytic Leukemia and other TP53 mutared cancers. In 2017 she was elected coordinator of Network for Italian Genomes NIG (www.nig.cineca.it).

She is currently Associate Professor of Medical Genetics at the University of Siena. Since the beginning of her clinical and research activity she contributed to the development of the genetic counselling activity in the Medical Genetics Unit in Siena performing and supervising thousands of genetic counselling clinics. Her main research interests are focused on understanding the genetic bases of rare disorders mainly Intellectual disability, including Rett syndrome, Alport syndrome, and rare cancers. She contributed to the identification of two new disease genes: FACL4, responsible for an X-linked form of Intellectual disability, and FOXG1, responsible for a Rett syndrome variant.

She is currently Associate Professor of Medical Genetics at the University of Siena. Since 2014, she is Director of the I level Master Course in Genetic-Molecular Pathology at the University of Siena. Her research has been focused on the study of the molecular mechanisms undelying rare diseases, in particular Rett syndrome, Retinoblastoma and Alport syndrome. She has long lasting expertise in Next Generation Sequencing (NGS) technology and analysing the “exome” (coding portion of the genome) she identified the genetic causes of other conditions with intellectual disability.

She is currently Specialist of Research and Technician at the University of Siena. Her research has been focused on the study of the molecular mechanisms undelying rare diseases. She has long lasting expertise in Next Generation Sequencing (NGS) technology and “exome” (coding portion of the genome) and genome analysis as well as preimplantation genetic diagnosis.

She is currently Senior Researcher of Medical Genetics at the University of Siena. Her research has been focused on the study of the molecular mechanisms undelying rare diseases, in particular Rett syndrome. She has long lasting experience on molecular charaterization of disease mechanisms through the employment of “genetic reprogramming”, an innovative process that allows to obtain Induced pluripotent stem (iPS) cells from patients fibroblasts and differenziate them in any cellular type, including neurons.

She is currently Senior Researcher of Genetics at the University of Siena. She has been working in the field of lung cancer (LC) genetics for ten years first in Milan, at Fondazione IRCCS Isitituto Nazionale Tumori , and then at University of Siena (2013-today). Her research has been focused on studies aimed to identify functional genetic elements associated with LC development and prognosis through genome wide association studies, genetic linkage, transcriptome studies and innovative “omics” approaches that integrate genomic (WES) and transcriptomic (RNAseq) data as well as liquid biopsy analysys.