Alessandra Renieri

Prof. Alessandra Renieri is an expert clinical geneticist with long experience in syndromic and non-syndromic intellectual disabilities (ID), 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. Her main research interest has always been the study of the genetic basis of rare diseases, with a special focus on Rett syndrome, and other conditions with ID, 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. In 2017 she was elected coordinator of Network for Italian Genomes NIG (www.nig.cineca.it). Recently, to rapidly respond to the current COVID-19 outbreak, she has built up an international consortium of which is coordinator for the proposal to the IMI2-2020-21-01 entitled "reCOVID - Human Genome-based approach for the diagnosis, prognosis and treatment of COVID-19 and prevention of future outbreaks".