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Genetic analysis of patients with arrhythmogenic right ventricular dysplasia (ARVD) and functional characterization of differentiated cardiomyocytes (iPSC-CM)

Grant number: 15/05806-9
Support Opportunities:Scholarships in Brazil - Master
Effective date (Start): July 01, 2015
Effective date (End): March 31, 2017
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Alexandre da Costa Pereira
Grantee:Fanny Wulkan
Host Institution: Instituto do Coração Professor Euryclides de Jesus Zerbini (INCOR). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil


The arrhythmogenic right ventricular dysplasia (ARVD) is a genetic cardiomyopathy characterized by the replacement of myocardial cells by fibro-fatty tissue. The disease has a prevalence of approximately 1: 3500, and is more common in young people, athletes and males. The clinical diagnosis is based on the International Task Force Criteria which takes into account several types of criteria. Currently, multiple mutations had been described, associated with the disease in 12 key genes. The next-generation sequencing is a technique that has enabled major progress in molecular diagnosis and consequently in the prevention of this disease in familial cases, allowing a clearer correlation between genotypic and phenotypic changes. Currently, the use of iPSC as in vitro model of certain heart diseases, allows assess which specifically genotypic changes are related to the different phenotypic consequences of ARVD. This study aims to standardize and application of next-generation sequencing platforms in molecular diagnosis of ARVD, the verification of a possible correlation between mutational load and the phenotypic expression of the disease; explore possible new mutations and link genetic variants to different cellular phenotypes. Approximately 40 individuals with a clinical diagnosis of ARVD of the ambulatory of Arrhythmia of the Heart Institute of the Faculty of Medicine of São Paulo (InCor - HC/USP), will be subject to a genetic evaluation by sequencing method according to IonTorrent platform PGM and functional evaluations, according to phenotypic analysis of iPSC-derived cardiomyocytes. (AU)

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