Alessandra Renieri

She has a Ph.D. in Human Genetics and an MS in Medical Genetics. She is currently Full Professor of Medical Genetics at the School of Medicine of 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 10,000 genetic counseling. 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 (ID), Alport syndrome, retinoblastoma and other rare cancers. She identified two new genes: 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. Since 2002 she has directed the Genetic Biobank of Siena (GBS,, one of the few in Italy certified SIGU-CERT and ISO9001. GBS is the Italian Partner of BBMRI (Biobanking and Biomolecular Resources Research Infrastructure), member of EuroBioBank and RD-Connect. Her laboratory is a referral center for Rett in Italy and, since 2009 Alessandra Renieri coordinates the international Rett Networked Database ( Research activities of Prof. Alessandra Renieri are substantiated by 196 original publications in international journals with a total IF of 874,543. She is author of 3 book chapters, reviews made by request, and one N&V in Nat Genet. She has a H-index of 35, with a number of total citations of 4,605 and a number of articles in the last 10 years of 129.