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Medical and health sciences
- Cardiac and vascular medicine not elsewhere classified
- Clinical genetics and molecular diagnostics
Over the last two decades, clinical knowledge about heritable thoracic aortic diseases (HTAD) has expanded significantly. Initially centered around Marfan syndrome, we now understand numerous other conditions and their associated genetic variants. This growing genetic insight is pivotal for diagnosis, management, and developing targeted treatments. Despite advancements, key challenges remain, including improving risk stratification and addressing the complexities of genetic testing. This project aims to bridge these gaps by integrating genetic, clinical, and molecular data to personalize patient care. We will focus on refining risk stratification methods and exploring novel therapeutic targets, including the role of inflammation in aortic diseases and the genetics of rare HTAD. By leveraging international collaborations, this work will enhance our understanding of both rare and common cardiovascular conditions, such as aneurysms and heart failure, ultimately contributing to more effective, personalized treatment strategies.