Eva Trevisson
Department of Women's and Children's Health · University of Padova
Research Interests
Research activities focused on Molecular Genetics (mitochondrial disorders, CoQ10 deficiency; genetic variants validation using model organisms) and Clinical Genetics (neurocutaneous syndromes and other cancer predisposition syndromes). Teaching activities at...
Biography
My research has focused on the study of the genetic bases and the pathogenesis of different genetic diseases, including inherited metabolic disorders (isolated cytochrome c oxidase defect, primary coenzyme Q deficiency) and urea cycle defects. I set up different systems to validate pathogenic mutations and to establish genotype-phenotype correlations, using different approaches in both yeast and mammalian cells. To unravel the function of different genes involved in mitochondrial respiratory chain, I also employ multicellular organisms, including C.elegans and Zebrafish. I am now involved in cancer genetics research, particularly on the study of the mechanisms driving pediatric cancers associated with a genetic predisposition. I am employing the same organisms to model germline mutations in oncosuppressors/oncogenes identified in rare tumor predisposing syndromes in order to deeply analyze cancerogenesis and to set up simple models for drug screening. Concerning Clinical Genetics, my
Education
PhD program in Developmental Medicine and Health Planning Sciences, Department of Paediatrics, University of Padova. Research Line: rare diseases. Mention of Doctor Europaeus Medical School, University of Padova, degree magna cum laude
Recent Scopus Publications
- Characterization of STRC Gene Conversions by Nanopore Sequencing
- ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)
- Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
- Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia
- Impact of genetic variants on hippocampal volume among individuals with schizophrenia and bipolar disorders
Links
- ORCID https://orcid.org/0000-0002-5380-6265
- Scopus https://www.scopus.com/authid/detail.uri?authorId=8922220000