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Molecular analysis of genes related to sudden cardiac death in Brazilian population

Grant number: 12/17893-5
Support type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): March 01, 2013
Effective date (End): February 29, 2016
Field of knowledge:Biological Sciences - Physiology - General Physiology
Principal researcher:João Bosco Pesquero
Grantee:Elice Carneiro Batista
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil


Sudden cardiac death (SCD) is one of the leading public health problems in the world. Owing to the increasing number of patients with hypertrophic cardiomyopathy, cardiac failure and coronary artery disease, there is an increased probability of incidence of the SCD. The difficulty in developing effective measures for risk stratification and prevention of the sudden cardiac death can be directly assigned to the complexity of the mechanisms involved in fatal arrhythmogenic, particularly at the level of community. The definition of risk is very difficult and the establishment of an effective prophylactic treatment has shown to be a significant clinical challenge. The investigation of mutations in main genes correlated to the sudden cardiac death together with the detection of SNPs (Single Nucleotide Polimorphism) are able to bring advance to build a genetic profile of the population along with the establishment of an important diagnostic platform. Studies are necessary for the development of a genetic tool indicative of SCD risk for Brazilian population. The molecular genetic diagnosis is also of great importance for preventative approach for the early onset of conduct aimed at preventing or delaying the development of clinical. In addition, it will facilitate the clinical follow-up of mutation carriers without apparent disease which may result in improved prognosis and quality of life. (AU)

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