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Robyn Macrae

Robyn Macrae

BHF 4-Year Programme PhD Student


Research Interests

Supervisors: Dr Anthony Davenport and Dr Sanjay Sinha

Title: Functional effects of apelin receptor mutations associated with pulmonary arterial hypertension in a human embryonic stem cell derived model.

Abstract: Pulmonary arterial hypertension (PAH) is a disease in which remodelling of the pulmonary vasculature causes increased pulmonary vascular resistance and right ventricular afterload, often leading to right sided heart failure and death.  The condition is poorly understood and there are few effective treatments, meaning mortality rates are high. 

Recently, the G-protein coupled apelin receptor has been suggested as a potential target for the treatment of PAH.  Analysis of sequencing data from patients with rare diseases from the ongoing 100,000 Genomes Bridge Project has revealed a number of mutations in the apelin receptor associated with PAH. 

This study aims to introduce these mutations into human embryonic stem cells (hESCs) using genome editing technology, which can then be differentiated into various cell types implicated in PAH, including cardiomyocytes, vascular smooth muscle cells, and endothelial cells. We hypothesise that hESCs and the derivative cells can be used as a novel platform to investigate the functional role of mutations in the apelin receptor.  It is hoped that this will reveal insights into the pathogenesis of PAH and potential new targets for therapeutics.

Keywords

Apelin ; pulmonary arterial hypertension ; stem cells

Key Publications

Posters: British Pharmacological Society Cell Signalling Meeting 2018: Characterising the apelin/Elabela signalling pathway in human embryonic stem cell derived cardiomyocytes, endothelial and smooth muscle cells.

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