Finnish cardiomyopathies - from genetics and phenotype to pathogenesis (CardioPath)


In short, what is your research project about? What are you researching and why?

Cardiomyopathies are a major cause for cardiovascular mortality and morbidity, particularly among young people. As the genetic background of cardiomyopathies in Finland is unique, our aim is, first, to identify the most important mutations causing cardiomyopathy in Finland by targeted next-generation and exome sequencing techniques, and to study mutation-specific phenotype and prognosis. Second, we aim to investigate mutation-specific pathogenic mechanisms of cardiomyopathies in iPS cell-derived myocyte models of different mutations. Third, we aim to establish an iPS cell library harvesting Finnish cardiomyopathies and a databank combining clinical and genetic patient data with in vitro data from corresponding mutation-specific iPS cell lines. In the present study, genetically specific iPS cell models will enable us to search for the best medical treatment for each mutation, making personalised treatment of cardiomyopathies a real possibility in the future. Fourth, we aim to raise diagnostics and clinical treatment of cardiomyopathies in Finland to a high international level, as we will utilise the knowledge produced in the project in the clinical diagnostics and care of individual patients. Finally, at the societal level, since cardiomyopathies are a major cause of mortality and morbidity in young individuals, tackling this important health problem will also have a positive social impact by improving disease diagnostics and treatment.

There is much talk about multi-, trans- and interdisciplinarity nowadays. Are these merely trendy buzzwords for scientific collaboration, or do they serve an instrumental purpose in your project?

The CardioPath study is clearly multidisciplinary, with expertise in clinical cardiology, genetics, biotechnology and cell physiology.  Our study could not exist in its present form without diverse scientific know-how.

Research into personalised health involves an integrative “from-research-to-practice” mindset. Where do you place your own research in this context? Does your project have partners that are not research-related partners?

We have close contact with clinical cardiology. The results of the study will swiftly be applied to clinical practice, when appropriate.

A big fuss over nothing, or a major change in practices? In your estimation, how and when will the effects of the promotion of personalised health be evident in the healthcare system?

Personalised medicine is definitely the way to go in healthcare.  For example, in the modern clinical care of patients with cardiomyopathy, as applied at Kuopio University Hospital, treatment and follow-up are tailored according to personal genetic, clinical and risk stratification knowledge for each patient, in compliance with international guidelines. In addition, first-degree relatives are screened, preferably with genetic testing, if the disease-causing mutation is found in the proband. The CardioPath study may make it possible to find targeted personalised treatment affecting the natural history of specific cardiomyopathies.

Last modified 2 Dec 2015
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