Ciliary signalling in cardiovascular development and disease


 

Daniel Baird (ESR12)

Daniel 12.jpg

Daniel was born in Edinburgh, Scotland and obtained his Bachelor’s degree in Medical Sciences at the University of Edinburgh which included an Erasmus exchange to the Karolinska Institutet in Stockholm, Sweden. Daniel continued his studies and gained a MSc degree in Chronic Disease and Immunity from the University of Leicester, England. During his time in Leicester, he completed a research project in cilia disease diagnosis which he found fascinating. This has led him to Copenhagen, Denmark where he will be researching the role of cilia in heart development and disease as part of the Medical Genetics and SCilS programs at the University of Copenhagen.

Abstract
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 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. In this project, several genes linked to ciliary signalling and CHD will be investigated by generating zebrafish CRISPR/Cas9 knockout lines to allow for specific heart processes to be analysed in detail. Analysis of hearts in zebrafish will identify how ciliary genes affects heart development with the aim of revealing novel gene networks in cardiogenesis.