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Semiconductor sequencing applied to the sudden cardiac death research


Sudden cardiac death (SCD) is a major health problem with an incidence of 30-200/100000 people each year. Atherosclerosis and acquired forms of cardiomyopathies are the most frequent findings in adults with SCD whereas in people under 35 years old, non ischemic diseases are responsible for a large number of cases. Particularly, an important number of previously healthy young people who died suddenly and unexpectedly are consequence of genetic heart disorders, either structural cardiomyopathies or arrhythmogenic abnormalities. Genetic screening of major genes involved may help to determine the cause of death and also to evaluate the potential risk of relatives. The technological approach to analyze this type of genetically heterogeneous disorders is far from easy but nowadays, new technologies such as semiconductor sequencing greatly increase our ability to make a rapid and efficient genetic diagnosis.This project aims to use the effectiveness and performance of the new Semiconductor Sequencing platform, the Ion Torrent, applied to the study of the genetics of sudden cardiac death in young people, in a cohort of patients collected over a period to be determined, depending on the response of calls to patients with previous clinical diagnosis to be invited and attended the Institute of Cardiology Dante Pazzanese. (AU)

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