Biography

Main research field is genetics of inherited arrhythmic cardiomyopathies with particular attention on the clinical application of molecular and pathological mechanisms underlying the pathogenesis. Indeed, with her studies she linked for the first time desmoglein-2 gene to Arrhythmogenic Cardiomyopathy and then she engineered an experimental mouse model reproducing the same genetic defect, to study the disease mechanism by electrophysiology, histology, ultramicroscopy and molecular biology.
To-date, her research is published in prominent peer-reviewed journals, among which European Heart journal, Circulation and Journal of Experimental Medicine, claiming an overall impact factor of 700 (IF average 9.8; H-index 29; Citation 3629).
She is an Executive Committee member of the international consortium Clinical Genome Resource (ClinGen), which comprise a panel of world-wide experts collaborating to define the clinical relevance of genes and variants for use in precision medicine and research. She is also a member of the Italian Society of Cardiology (SIC), the Italian and European Society of Human Genetics (SIGU, ESHG) and the Italian Association of Genetics (AGI).
She received 8 prestigious awards for her studies from the Italian Society of Cardiology- scholarship for research at foreign institutions (2006), the Italian Association of Legal Medicine and Insurance- International Award ‘Massimo Castagnini’ (2007), the Association of European Cardiovascular Pathology (2008), the Italian Society of Cardiology- Award for the best presentation at the annual meeting of American Heart Association (2009), the Association of the Italian Cardiovascular Pathology-Award ‘Giorgio Olivetti’ (2009), the Italian Society of Cardiology- award for the best publication in international scientific journals (2009), the National Consortium of Heart Associations-young investigators project award (2010) and the Association of European Cardiovascular Pathology-prize for the best oral communication (2012).
Her teaching activities comprise lectures of Pathological Anatomy in Medicine and Dental Care, of Cardiovascular Genetics in Medicine, of Genetics in Obstetric and Gynecology, of Molecular Genetics in the PhD Course of Translational Medicine ‘G.B. Morgagni’, of Ultrastructural techniques and lectures of Genetics in Pathological Anatomy and Statistics Post-graduate specialization courses, respectively.
In 2013, she founded the first Cardiovascular Genetics lab of the Veneto Region in convention with the National Health System at the Cardiovascular Pathology unit of Padua Hospital, which sees engaged 3 Biologist Executives, 2 postgraduates and 1 biomedical laboratory health technician. In addition to the aforementioned and structured staff, Cardiovascular Genetics also includes 2 post-Docs dedicated to research activities and in support of Biologist Executives.
Cardiovascular Genetics scientific activity and clinical-diagnostic practice are focused on causes of Rare Diseases (ERN-Guard-Heart) and which annually includes:> 4000 level II analyzes, including exomic analyzes and multigenic panels, > 1500 genetic visits to the year for diagnostic classification and coordination of> 2000 multi-specialist services.
The scientific activity of Cardiovascular Genetics is divided into three sectors: (i) genetically determined heart diseases, both structural and sine materia (ii) hereditary inflammatory pathologies of the heart and epigenetic factors and (iii) the in vitro models for the aforementioned pathologies. All sectors concern the characterization of the mutational spectrum of belonging to known genes, the description of new genotype-phenotype correlations, the identification of new disease-genes and new molecular mechanisms of Mendelian / rare diseases and the contribution to the definition of the natural history of the pathologies of interest. Furthermore, with regard to inflammatory pathologies, projects dedicated to improving the interpretative pipelines for the clinical classification of variants of the identified genetics and to the creation of cellular models to lay the foundations for drug repurposing studies in specifics of interest have been launched. For this reason, collaborations are active aimed at improving the "detection rate" and the "clinical usefulness" of exomic diagnostics through the development of innovative pipelines that contemplate an integrated omic approach to the "undiagnosed" patient. The facilities made available to Prof. Kalliopi Pilichou for carrying out the activities described include 2 molecular genetics laboratories, 1 sample reception room, 1 pre-PCR room, 1 microscope area, 1 cell room, 1 study room, 1 secretariat, front-desk area.