ESR12

Ciliary signalling in cardiovascular development and disease


Congenital Heart Disease (CHD) is the most common birth defect and disruptions in primary cilia structure and function can result in CHD. In an attempt to reveal novel genetic factors in cardiovascular development, we performed genetic and genomic analyses of CHD patients and identified CHD candidate disease genes from exome sequencing of Danish CHD families and by meta-analyses of genomic copy number variants identified in 7,958 CHD probands and de novo loss-of-function mutations identified by exome sequencing of 2,489 parent-offspring trios. This revealed several genes linked to ciliary signalling with unknown function in the developing heart. ESR5 will investigate the roles of these candidate genes in heart development in vivo using zebrafish system. ESR12 will generate zebrafish CRISPR /Cas9 knock-out lines of the selected candidate genes and examine specific heart processes in detail. ESR12 will reveal novel gene networks in cardiogenesis via transcriptome analysis.

Partner: University of Copenhagen, Denmark

Supervisor: prof dr L.A. Larsen