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Understanding the functional role of the non-coding genome in cardiovascular disease

Faculty of Biology, Medicine and Health

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Prof N Bobola , Prof N Hanley Applications accepted all year round Self-Funded PhD Students Only

About the Project

Cardiovascular disease is the leading cause of death worldwide. Inherited DNA sequence variants contribute to human diseases and susceptibility. The majority of disease-associated loci identified by genome-wide association studies (GWAS) lie in non-coding regions, but without a functional delineation of the genome, it is currently impossible to understand the importance of these variations and their contribution to biological mechanisms and disease.

This project will identify the functional segments of the non-coding genome that instruct formation of the outflow tract of the heart (OFT) and the great vessels. Epigenomic profiling of chromatin features (ChIP-seq) allows the identification of active regions in the non-coding genome in a tissue- specific manner; with this method, we will identify functional segments of the genome in a developmental time course of mouse and human embryogenesis, associate these regions with human genetic variation (GWAS) and study their function in vitro and in vivo. Abnormal development of the outflow tract of the heart and the great vessels can lead to congenital heart disease, and increased risk of cardiovascular disease in adulthood.

We expect that the results of this project will lead to discovery of genetic variants associated to congenital heart disease and clinical phenotypes disease risk, and will eventually expand diagnostic and therapeutic capacities.

Candidates are expected to hold a minimum upper-second (or equivalent) undergraduate degree in a related biomedical/biological science such as Molecular Biology, Developmental Biology, Bioinformatics or a closely related field. A Masters qualification in a similar area would be an advantage as would experience of human genetics, epigenetics and/or molecular biology techniques.

Funding Notes

Applications are invited from self-funded students. This project has a Band 2 fee. Details of our different fee bands can be found on our website ( For information on how to apply for this project, please visit the Faculty of Biology, Medicine and Health Doctoral Academy website (

As an equal opportunities institution we welcome applicants from all sections of the community regardless of gender, ethnicity, disability, sexual orientation and transgender status. All appointments are made on merit.


1. Spielmann M, Mundlos S. Looking beyond the genes: the role of non-coding variants in human disease. Hum Mol Genet. 2016 Jun 27. pii: ddw205. [Epub ahead of print]

2. Kathiresan S. and Srivastava D. (2012). Cell 148: 1242-1257.

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