Post-doc project Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease and a leading cause of sudden cardiac death in young people. In Northern Sweden, several families carry the same disease-causing genetic variants, suggesting a shared ancestral origin. This project will provide new insights into these variants and help improve early detection, risk assessment, and personalized care for individuals with inherited heart disease.
This project investigates inherited genetic variants that cause hypertrophic cardiomyopathy (HCM), the most common inherited heart disease. By combining genetic analyses with clinical data from families in Northern Sweden, the study aims to trace the origins of recurrent variants, estimate how long they have been present in the population, and examine their impact on disease development. The findings will support improved diagnostics, genetic counselling, and earlier identification of individuals at increased risk of heart disease.
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease and can lead to serious cardiac complications, including arrhythmias and sudden cardiac death. Several families in Northern Sweden carry the same disease-causing genetic variants, suggesting a shared ancestral origin.
The project aims to improve our understanding of recurrent genetic variants that cause HCM in Northern Sweden. By investigating their origins and clinical significance, the research seeks to support better diagnostics, risk assessment, and genetic counselling.
The project has three main objectives:
The study combines genetic analyses with clinical data from patients and families in Northern Sweden. By examining both genetic heritage and health outcomes, the project will provide a comprehensive picture of the factors underlying HCM in the region.
This is the first systematic investigation of founder mutations in HCM in Northern Sweden. The findings may contribute to more efficient genetic testing, earlier identification of individuals at risk, and more personalized follow-up and treatment for people living with inherited heart disease.
