Dr. Alessandra Renieri is Full Professor of Genetics and Director of the Medical Genetics Unit; University of Siena, Siena, Italy. She received her M.D. from the University of Siena, her Ph.D. in Human Genetics at the University of Torino and subsequently earned a specialist degree in Medical Genetics at the University of Florence.
In 1993 she worked in deletion mapping with Andrea Ballabio at the Molecular Genetics laboratory of Medical Center in Houston. Dr. Renieri then went back to Siena where she worked first as a Medical Assistant in the Hospital until she was selected as an Assistant Professor at the University. Doctor Reneri was appointed Associate Professor in 2000 and Full Professor of Medical Genetics in 2007 at the University of Siena, School of Medicine.
Her main research interest has always been the study of the molecular bases of intellectual disability, with a special focus on X-linked forms, and in 2002 her group identified a new gene involved in this heterogeneous condition, ACSL4. Her laboratory was among the first in Italy to introduce array-CGH analysis for the study of intellectual disability. She has been involved in research on Rett syndrome for many years and has contributed to the identification of all three known genes presently associated with the disease, as well as to the definition of the associated clinical phenotype.
Specifically, her group identified the molecular basis of several Rett variants:
- Preserved speech variant is allelic of classic Rett syndrome.
- CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
- FOXG1 is responsible for the congenital variant of Rett syndrome.
Dr. Renieri’s laboratory is a referral center for Rett in Italy and, since 2002, she directs a biobank dedicated to Rett syndrome that collects both samples and clinical information. Clinically she contributed to definition of diagnostic criteria of Rett and variants, including:
- Renieri A, et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev. 2009 Mar;31(3):208-16;
- Artuso R, et al. Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev. 2010 Jan;32(1):17-24;
- Neul JL, et al.RettSearch Consortium. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010 Dec;68(6):944-50.
In 2009 she began coordinating the biggest database in the word of Rett and related disorders: The Rett Database Network
In order to create a human cellular model for the study of the pathogenic mechanisms of Rett syndrome directly in human affected neurons, she recently set up the technique of genetic reprogramming in her laboratory. Dr. Renieri has been researching the FOXG1 Gene by using some induced pluripotent stem cells (iPSC) from a Foxg1 patient that she was able to “push” in the lab to develop into neurons, which can now be used for experimentation.