Prof. Alessandra Renieri is an expert clinical geneticist 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 diseases and genetic cancers. She has a long experience in rare diseases including syndromic and non-syndromic intellectual disabilities (ID), with a special focus on Rett syndrome, and other conditions including Alport syndrome, retinoblastoma and other rare cancers. She is 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. Her laboratory is a referral center for Rett in Italy and, since 2009, she coordinates the international Rett database network (http://www.rettdatabasenetwork.org). In the post-genomic era the research focus was on microdeletion syndromes first and digenic diseases then. In 2010, she started to model Rett syndrome spectrum (MECP2, CDKL5 and FOXG1) with iPSC-derived neurons. In the field of cancer, she has been involved in cancer genetics for many years, in particular about retinoblastoma, breast, colon and lung cancer. Her laboratory is among the first in Italy to introduce the use of NGS for “liquid biopsy” as an innovative diagnostic and prognostic technique in cancer allowing the early detection of cancer as well as dynamically monitoring of cancer growth and resistance to treatment with important implications for “personalized medicine”. Since 2017 her research interest is focused on gene editing using crispr systems and its translation to clinical practice. Currently, 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-mutated cancers. Renieri is inventor of 2 patents: “CRISPR-Cas system for gene therapy” (Patent application N° 102018000020230) for the use of CRISPR/Cas9 technology in rare genetic diseases. December 19, 2018. - “Sistema CRISPR-Cas per l’editing genomico” (Patent application N° 102018000009431) for the employment of CRISPR/Cpf1 technology for specific delivery of suicide gene in cancer cells mutated in TP53. October 15, 2018. She is coordinating the Human Genomics platform within the DBM; it is equipped with High Throughput Sequencing facilities for next generation sequencing (NGS): Targeted-NGS, Whole-genome sequencing, Whole-exome sequencing, RNA sequencing, miRNA sequencing on two Life Technologies’ platform (Ion Torrent S5 and Ion Torrent Proton) and three Illumina platforms (MiSeq, NetxSeq550 and NovaSeq6000 System). In 2017 she was elected coordinator of Network for Italian Genomes NIG (www.nig.cineca.it). Genetics”. Research activities of Prof. Alessandra Renieri are substantiated by 286 refereed papers, over 6,912 citations, H-index of 43 (web of Science). She is author of 6 book chapters, 9 reviews made by request, one N&V in Nat Genet and 2 patents concerning the gene therapy.

Prof. Francesca Mari, President of SienaGenTest, is currently Associate Professor in Medical Genetics at the University of Siena (since 2016). She is a clinical geneticist consultant with long experience in syndromic and non-syndromic intellectual disabilities (ID). Since the beginning of her clinical and research career, 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: ACSL4, responsible for an X-linked form of Intellectual disability, and FOXG1, responsible for a Rett syndrome variant. Since 2013 she is also very much involved in massive parallel sequencing approaches, in order to identify novel disease genes for rare disorders and to identify the genetic modifiers of rare and common disorders. She is group leader of a research project that aims to explore new therapeutic approaches for Chronic Lymphocytic Leukemia based on the in-depth molecular characterization by exome sequencing analysis of the tumor and, in particular, evaluating a personalized gene editing-based therapy to convey a suicide gene towards leukemic cells with TP53 mutations.

Dr. Maria Antonietta Mencarelli is currently a consultant in Medical Genetics at Azienda Ospedaliera Universitaria Senese. She graduated with honor in Medicine at the University of Siena in 2004. In 2008 she received a specialist degree in Medical Genetics and in 2010 obtained an inter-University Master in Clinical Genetics by the University of Padova, Bologna, Genova, Florence, Turin, Siena and the Hospital of Benevento. In 2015, she completed a PhD in Genetics, Oncology and Clinical Medicine at the University of Siena. She personally performed more than 4500 second-level genetic counselling activities at the division of Medical Genetics of Siena, which consist among others of identifying a case on the basis of clinical genetics, recommending a possible molecular diagnosis, coordinating the implementation of the research, assessing the recurrence risk for relatives and, sometimes, making pre-symptomatic diagnosis. Her main research interest has always been to examine the clinical and genetic characterization of hereditary cancer, intellectual disability and autoinflammatory diseases.