Genetics in Cardiovascular Medicine

ago, the genetic etiology of most cardiovascular disorders/malformations was thought to be too complex to explain. Thanks to the rapid advances in cytogenetic and molecular genetic techniques as well as similar increased interest among geneticists, a more precise understanding of the molecular basis of cardiovascular diseases is now possible. Identification of genes that are involved in normal and abnormal development of cardiovascular system (including disorders) is the major goal of cardiovascular genetics research. Two main approaches to achieve this goal are human genetic studies and generation and analysis of animal models for such disorders. In recent years, human genetic studies including various types of association and linkage studies have proven to be very useful to identify many inherited factors that contribute to an individual’s risk of developing different cardiovascular disorders. In this path many disease-causing mutations were also identified. In the first part of this talk an overview of human genetic studies with focus on methods applicable to our population will be given and examples of original association and linkage studies performed by ourselves or our close colleagues will be presented. In the second part, genetic manipulation of mice as a choice experimental model to address many long-standing open questions in cardiovascular biology will be discussed. Again, results obtained from some original studies will be presented. Particularly generation and analysis of Klf13 siRNA transgenic and Klf13 knock out mice will be discussed. Development of hypertension, cardiomyopathy, and anaemia in Klf13 knock out mice uncovered the important role of Klf13 in cardiovascular biology.