Ramon Brugada
Validation of a tool to predict the genetic risk of myocardial infarction and sudden death in young people
Ramon Brugada
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PROJECT LEADER
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APPLICANT INSTITUTION
AND COUNTRYGirona Biomedical Research Institute Dr. Josep Trueta (IDIBGI), Girona, Spain
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DESCRIPTION
Coronary artery disease is the most common cardiovascular condition worldwide. A blocked coronary artery can lead to myocardial infarction. There are several risk factors that can contribute to the development this disease, such as poor diet, a sedentary lifestyle, smoking or high alcohol consumption, which are preventable and well known. But there are also hereditary genetic factors that can increase the risk of developing this pathology. This second type of factor particularly affects young people, who may experience an acute myocardial infarction leading to sudden death. Genetic inheritance plays a crucial role in these cases. It is believed that genetic factors associated with thrombosis, that is, the occlusion of a blood vessel, may predispose individuals to this complication.
Over the past five years, the team leading this project has studied, clinically characterised and collected genetic material from a cohort of young people who had suffered a type 1 myocardial infarction. This has enabled the identification of new genetic markers associated with thrombotic complications.
In the current project, the team aims to validate these results with a second cohort of individuals who have suffered an acute myocardial infarction and a third cohort who have suffered sudden cardiac death. The goal is to obtain a polygenic risk table that determines an individual’s likelihood based on genetic and personal factors. The work developed by the project could have significant implications for detecting the risk of myocardial infarction and sudden cardiac death in young people and may provide a tool to facilitate prevention and the adoption of therapeutic strategies for individuals at risk.
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ORIGINAL
TITLEGenetic predisposition to myocardial infarction in the young
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PROJECT
STAGEStage 1