Using genomics to develop more equitable tools for cardiovascular disease prevention & treatment

Doctor Sonia Shah, The University of Queensland

Future Leader Fellowship

Years funded: 2026 - 2030

Using genomics to develop more equitable tools for cardiovascular disease prevention and treatment

Long-term vision: Healthy hearts for all Australians. Significance: Cardiovascular disease (CVD) risk factors, age at disease onset, and treatment response can vary by sex and ancestry. However, under-representation of women and culturally and linguistically diverse (CALD) populations in research has led to inequity in CVD prevention and management.

AIM 1: Understanding sex-differences in heart failure (HF) and abdominal aortic aneurysm (AAA). HF affects >64 million people worldwide, and sex-differences in risk factors and clinical presentation are some of the most profound in HF. AAA is the weakening of the main blood vessel of the abdomen. It affects >20 million people worldwide, with ~200,000 sudden deaths each year due to rupture. Women have a higher risk of rupture, but no drugs exist to treat AAA. Understanding what factors drive these sex-differences remains a major knowledge gap. I will use genetic data to understand the biological drivers of sex-differences in HF and AAA. I will leverage biobanks and existing international collaborations on HF and AAA to access the largest available genomic datasets for these diseases.

AIM 2: Understanding CVD risk in the Australian South Asian population. CVD disproportionately affects certain culturally and linguistically diverse (CALD) populations. The National Heart Foundation recognises Aboriginal and Torres Strait Islander, Pacific Islander and South Asian populations to have elevated CVD risk. However, tools used by GPs to assess CVD risk have been developed from data based on mostly European ancestry individuals and underestimate risk in these populations, potentially leading to delayed access to preventative healthcare. This project will focus on increasing representation of South Asians in CVD research. South Asians (ancestry from Bangladesh/Bhutan/India/Maldives/Nepal/Pakistan/Sri Lanka) make up one of the fastest growing migrant groups in Australia, with >1.1 million Australians born in South Asia (2021 Census). Working in partnership with a community advisory group, I will leverage data collected in 200 Australians of South Asian ancestry through the South Asian Genes and Health in Australia Study (which I lead) to assess CVD risk in this population.

Impact: Through a focus on under-served populations, my research will enable the development of more equitable tools and guidelines for CVD prevention, diagnosis and management.

Findings from this research will be disseminated to the clinical and research community through scientific publications and conference presentations, while dissemination to the public and policy makers will be carried out through media platforms (TV, radio, print and social media) and community and public events.