RENIERI ALESSANDRA

Prof. Alessandra Renieri's main research interest has always been the study of the genetic basis of of rare diseases, with a special focus on Rett syndrome, and other conditions with intellectual disabilities (ID), Alport syndrome, retinoblastoma and other rare cancers. She identified two new genes disease: FACL4 gene for X-linked ID and FOXG1 gene for Rett syndrome. Her laboratory was among the first in Italy to introduce the technology of array-CGH and of Next Generation Sequencing (NGS) for clinical diagnosis.

She has been involved in research on Rett syndrome for many years and she contributed to the identification of all 3 known genes presently associated to the disease, as well as to the definition of the associated clinical phenotype. Her group identified FOXG1 as the first autosomal gene involved in Rett syndrome. Her laboratory is a referral center for Rett in Italy and, since 1998, she directs the Genetic Biobank of Siena (GBS, http://www.biobank.unisi.it), one of the few in Italy certified SIGU-CERT and ISO9001, and funded by Telethon since 2002. GBS is the Italian Partner of BBMRI (Biobanking and Biomolecular Resources Research Infrastructure), member of EuroBioBank and RD-Connect. Since 2009, she coordinates the international Rett database network (http://www.rettdatabasenetwork.org). She also coordinates the Italian Registry of Alport disease, an Italian network for Alport disease, which aims to fund and support actions in favour of the management and treatment of ATS patients. In order to create a human cellular model for the study of the pathogenic mechanisms of Rett syndrome directly in human affected neurons, she set up the technique of genetic reprogramming in her laboratory (iPS).

She has been involved in cancer genetics for many years, including 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 for early detection and monitoring cancer growth and resistance to treatment for “personalized medicine”.

Prof. Renieri is HCP (Health Care Provider) representative/sub-representative for Azienda Ospedaliera Universitaria Senese (AOUS) of 5 European Reference Networks (ERNs): EuroBloodNet (on rare haematological diseases); ERKNET (on rare kidney diseases); ERN ITHACA (on ID and congenital anomalies); PaedCan-ERN (on paediatric cancers) and EURACAN (for rare adult solid cancers). She is coordinator of Registry WP with the ERN ITHACA and involved in the interoperability between Registries at European Level (coordinator of Rett Networked Database) and is leading for ERN ITHACA the project for H2020 HP-PJ-06-2016 "Support for New Registries" call.

She is an active member of the Telethon Network of Genetic Biobanks. She acts a medical advisor with several patient organizations including AIRETT, and supervises specialist clinics for rare disorders within AOUS.

Since 2017 her reasearch 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 mutared cancers. More recently, in Siena she was sorting out a sort of “factory” for producing plasmid & vectors for gene editing in vitro & animal models, preliminary for clinical trial for a number of diseases including Rett syndrome, Parkinson disease, Alport syndrome and Pompe diseases, among others.