Research Overview

Dr. Flora Tassone received her B.S. degree in biology from the University of Rome “La Sapienza” and her PhD in Molecular Biology from the Catholic University of Rome, Italy, in 1992, for her studies on Down Syndrome. During the postdoctoral fellowship, first at the Eleanor Roosevelt Institute in Denver, Colorado, and then at University of Colorado Health Science Center she continued to work on the identification of genes involved in Down Syndrome and started to focus her attention on the molecular basis leading to Fragile X syndrome and autism spectrum disorders. In 2000 she moved to the University of California, Davis and focused her research on neurodevelopmental disorders including Fragile X syndrome and associated disorders, autism spectrum disorders and 22q deletion syndrome. She is a Professor in the Department of Biochemistry and Molecular Medicine, and a MIND Institute investigator at the University of California, Davis, School of Medicine.

The main focus of Dr. Tassone’s research is to understand the molecular mechanisms and the correlation with clinical involvements of neurodevelopmental and neurodegenerative disorders. Her expertise is in transcriptional and translational gene regulation, particularly of the fragile X (FMR1) gene.

Dr. Tassone has made a number of important observations related to the mechanism of gene expression of the FMR1 gene, especially regarding the effects of premutation alleles on individuals the scientific community thought to be clinically unaffected. Specifically, she investigated the clinical manifestations, FMR1 protein and FMR1 mRNA expression in individuals with fragile X syndrome and with FMR1 associated disorders and made the important discovery of gene dysregulation (increased activity) among premutation carriers. This discovery provided a molecular basis for the forms of clinical involvement among carriers, including fragile X- associated tremor ataxia syndrome (FXTAS). She continues to work on the molecular basis and abnormal molecular phenotype observed in individuals with FXTAS and continues to carry out a significant work on the molecular characterization of full mutation and premutation alleles and the association with a number of clinical features observed in carriers of these mutations.

In the past few years, she has been involved in the development of molecular biomarkers predictive of drug efficacy and monitoring disease severity.

Dr. Tassone is the director of the Molecular Core of a Fragile X project. Her CLIA certified Laboratory provides the molecular support to a number of projects at the MIND Institute, as well as at the University of California, Davis. Her research also focuses on a number of other neurodevelopmental disorders including Autism Spectrum Disorders and 22q11.2 deletion syndrome. Dr. Tassone has extensive experience in medical genetics and clinical analysis. She has been granted multiple fellowships and training opportunities, as well as research awards from NIH, the National Fragile X Foundation, DOD, HRSA and UC Davis Health for her outstanding contributions to the field. Dr. Tassone is well known in the international Fragile X community; her work has been presented internationally and she has published extensively on the molecular aspect of Fragile X and FXTAS autism and 22q deletion syndrome.