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 School of Medicine of the University of Siena.
From 1992 to 2002 she personally performed 1240 second-level genetic counselling activities at the division of Medical Genetics of Siena, which imply 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. 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 10,000 genetic counselling.
Alessandra Renieri is currently Full Professor of Medical Genetics at University of Siena and Director of Medical Genetics Unit of the General Hospital of Siena (AOUS). Her main research interest has always been the study of the genetic basis of rare diseases, including Rett syndrome and other conditions with intellectual disabilities, Alport syndrome, retinoblastoma and other rare cancers. Since 2002 she directs the Genetic Biobank of Siena (www.biobank.unisi.it), certified SIGU-CERT & ISO9001, Italian Partner of BBMRI and member of EuroBioBank and RD-Connect. Since 2009 she coordinates the International Rett Networked Database (www.rettdatabasenetwork.org). She is HCP representative/sub-representative for AOUS of 5 European Reference Networks: ERKNET (on rare kidney diseases); ERN ITHACA (on ID and congenital anomalies); PaedCan-ERN (on paediatric cancers) and EURACAN (for rare adult solid cancers); EuroBloodNet (on rare haematological diseases).
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, her 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.