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Project

Study of the genetic basis and molecular pathogenesis of cardiovascular manifestations in heritable thoracic aortic aneurysms

This project aims to gain more insights into the molecular and cellular mechanisms contributing to Marfan syndrome (MFS)-related aortic- and cardiac disease by studying different pathways, cellular behaviour and cell-matrix interactions in MFS mouse models.

In addition, we aim to identify new genes in patients and families with genetically unexplained thoracic aortic aneurysms and dissections using a whole exome sequencing approach.



Date:1 Oct 2014 →  1 Nov 2019
Keywords:fibrillin-1, aortic aneurysms, TGF-beta, heritable connective tissue disorders, exome sequencing, cardiovascular system, genetics, marfan syndrome, cardiomyopathy
Disciplines:Laboratory medicine, Cardiac and vascular medicine, Medical systems biology, Molecular and cell biology