Alessandra Renieri graduated in Medicine at the University of Siena and obtained a PhD in Human Genetics at the University of Torino. Subsequently she received a specialist degree in Medical Genetics at the University of Florence and she then went back to Siena where she worked first as Medical Assistant and then as researcher. In 2000 she was appointed Associate Professor and from 2007 she is Full Professor of Medical Genetics at the University of Siena. She is the director of the Medical Genetics Unit of the General Hospital of Siena. Since 2001 she has coordinated, as director of the Medical Genetics Unit, more than 20,000 genetic counselling. From July 1st, 2019 she is member of the Committee for Advanced Therapies (CAT) at the European Medicines Agency.
Her 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. In particular, 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. Within GBS there is a section dedicated to Rett syndrome that collects both samples and accurate patient clinical information (http://www.biobank.unisi.it/Elencorett.asp). 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).
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. This methodology will allow the early detection of cancer as well as dynamically monitoring of cancer growth and resistance to treatment with important implications 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): ERKNET (on rare kidney diseases); ERN ITHACA (on ID and congenital anomalies); EuroBloodNet (on rare haematological diseases); PaedCan-ERN (on paediatric cancers) and EURACAN (for rare adult solid cancers).