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.

What does Daniel do now?

Daniel successfully defended his PhD thesis, titled “Ciliary signaling in cardiovascular development and disease”, in March 2024 from the University of Copenhagen. He has since started postdoctoral research in the Balasubramanian lab at the University of Sheffield, where he will generate and characterise zebrafish models for rare bone, connective tissue, and neurodevelopmental disorders for drug discovery.

What does Daniel think about our program?

I had a fantastic experience as an ESR within the SCilS consortium. Being a part of this consortium has allowed me to create new friendships and allowed me to collaborate with great scientists with a variety of experiences and expertise. The secondment exchanges gave me opportunities to learn new techniques which provide invaluable to my work. Having the opportunity to complete the PhD journey with other like-minded ESRs was truly a memorable experience. 

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.

We want you to understand!

Layman abstract

Removing Genes from Fish to Study Human Heart & Brain Disease 

Cell signalling via cilia, small hair-like structures on most cells, are important for heart and brain development. We use zebrafish to understand the formation of the human heart and brain. Using zebrafish, we look at whether removing certain genes results in problems to the heart or brain, causing disease. We can target these genes to develop new treatments.

You can also watch a 55-sec video which Daniel created to describe his research here: YOUTUBE or with others on our website here.