Brief Biography
Dr. Flora Tassone, Ph.D., is a Professor in the Department of Biochemistry and Molecular Medicine, a MIND Institute Investigator at the University of California, Davis, School of Medicine, and the Director of the National Fragile X Foundation Collaborative Biomarker Research Program (NFXF CBR Program-Biobank), which is hosted in her, CLIA certified laboratory, and funded by the National Fragile Foundation.
She received a PhD from the Catholic University of Rome, Italy, for her studies on Down Syndrome. During the postdoctoral fellowship, first at the Eleanor Roosevelt Institute in Denver, 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. She then moved to UC Davis where her laboratory research, continued to focus on neurodevelopmental disabilities. Her expertise is in transcriptional and translational regulation, and in particular of the fragile X (FMR1) gene. Dr. Tassone has made several important observations related to the mechanism of gene expression of the FMR1 gene, especially regarding the effects of premutation alleles on individuals (premutation carriers) the scientific community thought to be clinically unaffected. Specifically, she investigated the clinical manifestations, protein and FMR1 mRNA expression in individuals with fragile X syndrome and made the important discovery of gene dysregulation (increased mRNA activity) among premutation carriers. This discovery provided the molecular basis for the forms of clinical involvement among carriers, including fragile X associated tremor ataxia syndrome (FXTAS), which was described in 2001 by her team. Since then, she has had a long-standing focus on the molecular mechanisms related to the FMR1-associated disorders.
She was the PI on the first pilot study on Newborn Screening in Fragile X syndrome, funded by NICHD, the first of its kind in United States, which has generated prevalence data on FMR1 expanded alleles. She has developed a PCR-based methodology for both Fragile X syndrome and 22q deletion screening from blood spots.
She is involved in research aimed to the identification of susceptibility genes, genomic changes, and mitochondrial dysfunction in FXS, FXTAS, autism and 22q deletion syndrome.
She is actively involved in developing molecular biomarkers for predicting efficacy in target treatments and for monitoring disease progression in children and adolescents with FXS and in older premutation carriers with FXTAS.
She has made many contributions to the fragile X community and, she is the author of over 350 peer reviewed scientific papers.
Dr. Tassone has extensive experience in medical genetics and clinical analysis. She has been granted multiple awards, fellowship, and training opportunities, as well as research awards from NICHD, NIH, the National Fragile X Foundation, and UC Davis Health Systems for her outstanding contributions to the field.