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Most people are familiar with genetic traits such as heart rate, eye colour and height. Genes also determine our likelihood of having common diseases such as hypertension (high blood pressure), diabetes, and coronary heart disease.

We analyse genomic data in human populations to identify genes associated with traits and diseases. The genes identified through these studies have provided a greater understanding of the biology linking genotype (genetic background), phenotype (the traits that we see and measure) and ultimately risk of developing disease.

Complex cardiovascular traits

We work on multiple cardiovascular traits, in particular electrocardiographic traits. An electrocardiogram (ECG) is a test which measures the electrical activity of your heart to show whether or not it is working normally. An ECG records the heart's rhythm and activity on a moving strip of paper, or a line on a screen. Through international collaborations (as part of the CHARGE Consortium) we analyse large population genetic datasets with ECG measures and genomic data.

Population genomics

With modern genetic technologies, we have the capability to screen for trait-associated genes in the general population at high-resolution, and in an unbiased manner identify such regions or genes anywhere in the human genome. Using this information we can begin to create genetic profiles, or ‘polygenic risk scores,’ which allows grouping individuals within populations with very different trajectories of lifetime risk. Importantly, these genetic association studies have reinforced known disease associations and have also suggested additional ones that could reveal unrecognised biology, which may ultimately guide new therapies. We have successfully uncovered many new gene regions that play a role in determining the heart’s electrical activity.

Genomics of cardiovascular disorders

Dr Jamshidi leads the Genome Medicine Research Lab. She is particularly interested in conditions (both inherited and acquired) that cause abnormalities in the rhythm of the heart muscle, and cardiac hypertrophy (when the heart muscle thickens). She investigates the role genetic factors play in the development of these and other cardiovascular conditions. Her goal is to contribute to the development of new genetic diagnostic tests and therapies that target genes and specific biological mechanisms involved in abnormal heart function, allowing prevention and better treatment.

Genomics of epilepsy

Dr. Kate Everett is a member of the large European consortium, CoGIE, which has collated a large bank of DNA from patients with common forms of epilepsy, as well as from family members. This concerted effort has led to several high impact publications over the last few years, reporting the identification of novel susceptibility genes for epilepsy and improving our understanding of epilepsy physiology.

 

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