Event Date
Professor Flora Tassone, Department Biochemistry and Molecular Medicine, presents "Somatic mosaicism and diseases".
I am a Professor in the Department of Biochemistry at UC Davis and a molecular geneticist. For the past 20 years I have carried out significant work on the molecular characterization and mechanisms involved in neurodevelopmental disorders. My most significant work led to the important discovery of gene dysregulation (increased mRNA activity) among FMR1 premutation carriers. This discovery has provided the molecular basis for the forms of clinical involvement among carriers, particularly fragile X-associated tremor/ataxia syndrome (FXTAS). Since then, I have been involved in many studies related to the characterization of the molecular mechanisms leading to FXTAS and to genotype /phenotype correlations in premutation carriers. I have extensively published on many aspects of FXTAS. I have studied the role of epigenetics in ASD and FXS and I have recently published on how, prenatal exposure to Lactobacillus reuteri, a well-studied species of probiotic bacteria, prevented FXS-like symptoms in mice fed with a westernized diet. I have developed a PCR method technology, based on the use of CGG primer, capable of detecting expanded alleles in both genders that I have utilized in many screening studies (including subjects in different countries such as US, Spain, Guatemala, Indonesia, Emirates, in addition to high-risk population screening). I wrote numerous papers on molecular and clinical involvement in premutation carriers including elevated message levels, immune mediated disorders, psychiatric and the developmental problems that sometimes occurred in boys with the premutation including the presence of ADHD and autism spectrum disorder. I also wrote numerous papers on molecular biomarkers and targeted treatment in FXS, FXS diagnosis and screening and characterization of pathways dysregulated in FXS.
Host: Lisa Makhoul (lmakhoul@ucdavis.edu)