Genomics in Health

We use large-scale genomic data to gain insights into human disease to enhance our ability to prevent, manage, and treat them.

DNA is known as the ‘blueprint of life’, containing the instructions needed for an organism to develop and function. Though on average the DNA sequence of two human beings is 99% similar, it’s the differences that make us unique, but also determine how we respond to the environment and make some of us more susceptible to disease. Studying our genome using the latest genomic technologies can therefore provide in-depth insights into how our body functions and what goes wrong in disease. 

We have a focus on cardiovascular and liver disease and also collaborate with clinicians to use genomic data for clinically-driven research that can improve patient outcomes.


Group leader

Dr Sonia Shah

 Dr Sonia Shah

Group Leader, Genomics in Health

National Heart Foundation Future Leader Fellow

  +61 7 334 62623
  UQ Researcher Profile

The South Asian Genes and Health in Australia Study (SAGHA)

Cardiovascular disease risk factors, age-of-onset and response to treatment can vary by ancestry. However, medical guidelines on heart disease prevention and treatment are based on data from mostly people of European ancestry. South Asians make up almost 25% of the world’s population, but less than 2% of genetic research participants. Greater representation of diverse communities in research will help us reduce health inequity.

The South Asian Genes and Health in Australia Study (SAGHA) aims to increase representation of Australian South Asians in genomic and health research.

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Liver disease research

In Australia, around 400 new patients are put on the liver transplant waiting list each year with approximately 40% of them not receiving their lifesaving transplant (within a year of listing) and up to 10% not receiving it at all due to death or the disease progressing too far.

To address the shortage, livers donated after circulatory death (DCD) are being used. They must, however, pass stringent selection criteria and use normothermic machine perfusion (NMP) which is a new organ storage technique that preserves livers at body temperature using an artificial circulatory system (as opposed to storage on ice). In collaboration with surgeons from the QLD Liver Transplant Unit, we are using genomic technology to improve identification of viable livers following NMP.

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Gender matters: improved understanding of cardiovascular risk factors unique to women

Cardiovascular disease is the leading cause of mortality for women. However, cardiovascular disease in women has been under-researched and as a result is under-recognised, under-diagnosed and under-treated, leading to inequity in cardiovascular health. We use large-scale health and genomics data to better understand cardiovascular risk factors that are unique to women, with the long-term goal of improving prevention and treatment of cardiovascular disease in women.

If you are interested in undertaking any of the PhD projects below. Please reach out to Dr Sonia Shah including the project name in the subject line and with an up to date CV attached.

1. Gender matters: Using genomics data to understand sex-specific risk in heart disease

*this project qualifies for the Global Challenges Scholarship

Principal Advisor: Dr Sonia Shah

Associate Advisor: Prof Gita Mishra

The 2019 Women and Heart Disease forum highlighted clear disparities in CVD outcomes between males and females. The report (Arnott et al 2019 Heart, Lung and Circulation), highlighted a need to increase our understanding of sex-specific pathophysiology driving susceptibility to common diseases, and identification of sex-specific risk factors to improve early detection and prevention of CVD in women. Until recently, sex-specific research was underpowered and most studies on heart disease included a much smaller number of female participants. But this is beginning to change with the availability of large biobank data.  
This project will require statistical analysis of very large datasets with health records linked to genomic data to address these gaps in our understanding of heart disease in women. This includes data from the UK Biobank cohort in ~500,000 individuals (54% women) and data from the Australian Women’s Longitudinal Study (led by Prof Gita Mishra), a study looking at the factors contributing to the health and wellbeing of over 57,000 Australian women, and is the largest, longest-running project of its kind ever conducted in Australia.  
This project will lead to a better understanding of sex-specific risk factors for CVD, which will inform better CVD prevention strategies in women.

  • Group Leader, Dr Sonia Shah is the recipient of numerous awards including:
    • 2022 Queensland Young Tall Poppy Award
    • 2022 UQ Foundation Research Excellence Award
    • 2021/2022 Australian Superstar of STEM
    • 2020 Women in Technology Rising Star Science Award
    • 2020 Genetic Society of Australasia Early Career Award
  • PhD student, Mr Xiadong Mo, received the 2022 Oral abstract prize at the International Clinical Cardiovascular Genetics Conference
  • Post-doctoral research fellow, Dr Clara Jiang attended the 'Falling Walls Lab 2022' where she presented 'Repurposing drugs: breaking the wall of treating depression'.


  • Prof Julie McGaughran and Prof John Atherton (Queensland Cardiac Genetics Clinic, Royal Brisbane Women's Hospital)
  • Queensland Liver Transplant Service (Dr Nick Butler, Dr Peter Hodgkinson), Princess Alexandra Hospital
  • HERMES Heart Failure Consortium
  • University College London, UK (Dr Tom Lumbers)
  • King's College London, UK (Prof Cathryn Lewis)
  • The University of Edinburgh, UK (Prof Andrew McIntosh)

Our approach

We apply innovative statistical methods to genomic data generated using the latest genomic technologies in health-related research.

Research areas

Cardiovascular disease

Our research includes understanding heart failure biology, genetic prediction of cardiovascular disease, and understanding cardiovascular disease risk in understudied groups, including women and individuals from diverse ancestries. We lead the South Asian Genes and Health in Australia (SAGHA) Study focused on CVD risk in the Australian South Asian population.


The pipeline from drug discovery to market approval can take over 10 years and cost over 1 billion USD, with very high failure rates due to lack of safety or efficacy. Using a genomics approach, we are developing a pipeline that can better predict efficacy and safety of a drug in humans and reduce failure rates of the drugs that enter human clinical trials.

Liver transplant research

Northothermic machine perfusion (NMP) is a new organ storage technique that preserves livers at body temperature using an artificial circulatory system (as opposed to storage on ice). NMP has recently been implemented in Australia to address the shortage of liver transplant organs. NMP allows safe use of marginal livers that would normally be discarded by allowing surgeons to assess liver function before transplant. In collaboration with surgeons from the QLD Liver Transplant Unit who were the first to implement NMP in Australia, we are using genomic technology to improve identification of viable livers following NMP.

Group Leader

  • Dr Sonia Shah

    National Heart Foundation Future Leader Fellow
    National Heart Foundation Future Leader Fellow, Senior Research Fellow –Group Leader
    Institute for Molecular Bioscience



General enquiries

  +61 7 3346 2222

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IMB fully supports UQ's Reconciliation Action Plan and is implementing actions within our institute.

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