In Padua important realities

The Department of Cardiac, Thoracic and Vascular Sciences at the University of Padova Medical School, directed by Prof. Gaetano Thiene also Head of the Cardiovascular Pathology Unit at the Padova Hospital, which is a center of international reference for research on rare genetic cardiomyopathies, we received the following guidelines on the studies currently in progress:ntly in progress:

– basic research on animal models and transgenic cell, MIRNAs, and research with classical clinical translational approach to find new non-invasive means for pre-symptomatic early diagnosis with imaging tools, new markers, MIRNAs, etc.
– Genotype-phenotype correlation by means of next-generation sequencing methods (Next generation sequencing) and deletion analysis (MLPA)
– study on the feasibility of broad spectrum genetic screening on the population or limited to certain groups most exposed to risk (see athletes)
– Search for new disease genes and / or modifiers considering the marked genetic heterogeneity and variable penetrance
– Transgenic-mice animal and cell zebrafish- models for studying the pathogenesis of arhythmogenic to move from purely symptomatic relief to a curative (drugs to prevent or delay the onset and evolution of the disease)
– Role of innervation in heart disease at risk of sudden death
– Role of physical effort in the onset and progression of cardiomyopathy at risk of sudden death
– Prevention of cardiac arrest by pharmacological and interventional therapy (risk stratification)
– The prevention of athlete’s sudden death (the new guidelines)
Each year, the center follows more than 1,800 patients (including probands and family) with cardiomyopathies arrhythmic, and not structural, and is in close cooperation with research centers internationally recognized as:

Barry Maron, Heart Center Minneapolis, MN
Martin Maron, Tufts Medical Center,  Boston, MA
Artur Wilde-Connie Bezzina-Peter van Tintelen AMC, Amsterdam, NL
Jeffrey Saffitz-Angeliki Asimaki, Boston, MA; Frank Marcus, Tucson, Arizona
Sanjay Sharma, Elija Behr, St George Hospital-CRY, London, UK

The Laboratory of Human Molecular Genetics of the Department of Biology at the University of Padova, with Scientific Area Manager Prof. Alessandra Rampazzo, who is for more than 25 years studies molecular genetics of inherited cardiomyopathies, offers the following research fields:

– Identification of the cellular mechanisms that lead to the alterations in the heart of patients with inherited cardiomyopathies.
– Identification of new genes involved in hereditary cardiomyopathies, as the identification of the causative mutations is possible only for a limited percentage of patients, through sequencing of whole genomes or coding sequences of all genes (exome).
– Establish through studies in heart-derived cell cultures whether a sequence variation of a gene involved in arrhythmogenic cardiomyopathy in a patient is a mutation that causes the disease.

Genetic Mutations

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