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Dr Sonia Shah
Dr

Sonia Shah

Email: 

Overview

Background

My group's research uses large-scale genomic data to address knowledge gaps in disease, with a particular focus on cardiovascular disease.

Research programme

1. Cardiovascular disease research using big-data and genomics: with the goal of improving prevention and treatment of cardiovascular disease. By focusing on underrepresented groups, including women, my research aims to also address inequity in cardiovascular outcomes. I am the lead of the South Asian Genes and Health in Australia (SAGHA) study, which aims to increase representation of Australian South Asians in cardiovascular and genomics research. See saghaus.org for further details.

2. Drug genomics: I'm interested in using genomic approaches to predict drug effects, including identification of drug repurposing opportunities as well as identifying unknown adverse effects of medication.

3. Liver transplant research: In this collaboration with the QLD Liver Transplant Unit, we are using genomics to understand the effect of normo-thermic perfusion (a new organ storage method) on liver function, with the long-term goal of improving our ability to predict transplant outcomes.

Career summary: I was awarded my PhD from University College London (UK) in cardiovascular genetics. I began my post-doctoral fellowship under the mentorship of Prof Peter Visscher at the Queensland Brain Institute in 2013. Between 2016-2018, I was the lead analyst for the International Heart Failure Genetics Consortium (HERMES). In 2018, I was awarded an NHMRC Early Career Researcher Fellowship to investigate the relationship between cardiovascular and brain-related disorders using large-scale genetic and genomic data, under the mentorship of Prof Naomi Wray. I currently hold a National Heart Foundation Future Leader Fellowship.

Recognition:

2024 Australian Academy of Science Ruth Stephens Gani Medal for outstanding contribution to genetics research

2023 1 of 5 global finalists for the Nature Inspiring Women in Science (Scientific Achievement Award)

2023 Lifesciences QLD Rose-Anne Kelso Award

2023: Named in Australia's Top 25 Women in Science by Newscorp

2022 Queensland Young Tall Poppy Award

2022 UQ Foundation Research Excellence Award

2021/2022 Australian Superstar of STEM,

2020 Genetic Society of Australasia Early Career Award

2020 Women in Technology Rising Star Science Award

Availability

Dr Sonia Shah is:
Available for supervision
Media expert

Qualifications

  • Masters (Coursework) of Science, The University of Manchester
  • Doctor of Philosophy, University College London

Research impacts

Advancing knowledge in cardiovascular disease

Familial Hypercholesterolemia (FH) is a preventable cause of premature disease and death and is relatively common in the general population (~ 1 in 250). FH is considered a monogenic disease, though a monogenic mutation is only identified in ~30% of FH patients. This paradigm-shifting research on FH demonstrated a polygenic contribution to FH (Talmud P et al Lancet 2013;381:1293-301; FWCI 34.8), as a result of which the UK NICE guidelines on FH management were updated, and several UK Diagnostic Laboratories have implemented an additional polygenic test in FH patients, with reports of positive psychosocial impact on patients (Futema et al 2021, Journal of Lipid Research 62:100139). This research is cited in a patent (WO2014181107A1 - Genetic Method of Aiding The Diagnosis and Treatment of Familial Hypercholesterolemia). It has been used to develop a new disease category, termed ‘Polygenic Hypercholesterolemia’, https://www.heartuk.org.uk/genetic-conditions/polygenic-hypercholesterolaemia), cited in the NHS Chief Medical Officer 2016 annual report focused on how genomics can improve health.

I was part of the executive committee for the largest international heart failure consortium (HERMES https://www.hermesconsortium.org/) and co-led the largest (published) genome-wide association study on heart failure (Shah S et al Nat Commun 2020;11:296; FWCI 15.3) at the time, identifying novel disease biology. Our heart failure study has been cited >280 times in 3 years since publication, and has led to new avenues for drug development (e.g. Schmidt AF et al Nat Commun 2020:11:3255).

Demonstrating potential clinical application of genomic data

We demonstrated for the first time that genome-wide DNA methylation data may be useful for predicting human phenotypes over and above genetic data (Shah S et al Am J Hum Genet 2015;97:1; FWCI 2.8), as well as future health outcomes including mortality and (Marioni R et al Genome Biology 2015;16:25; FWCI 27.4). This research has been cited in 3 patents (e.g. WO-2018150042- A1 - DNA methylation signatures for determining a survival probability, which is using the findings to develop tests for clinical use), in two books (Handbook of Epigenetics (3rd Edition) and Aging: From Fundamental Biology to Societal Impact), highlighted in the online media site “The Conversation” and cited in the Wikipedia page on ‘Epigenetic Clock’.

Works

Search Professor Sonia Shah’s works on UQ eSpace

88 works between 2006 and 2024

1 - 20 of 88 works

2024

Journal Article

Genomics for Improving Heart Failure Risk Assessment in Cancer Patients

Shah, Sonia (2024). Genomics for Improving Heart Failure Risk Assessment in Cancer Patients. JACC: CardioOncology. doi: 10.1016/j.jaccao.2024.06.001

Genomics for Improving Heart Failure Risk Assessment in Cancer Patients

2024

Conference Publication

Sex Matters in Cardiovascular Research: A Higher Genetic Risk of Depression is a Greater Risk Factor for Cardiovascular Diseases in Females

Jiang, J., Singh, K., Nitin, R., Davis, L., Wray, N. and Shah, S. (2024). Sex Matters in Cardiovascular Research: A Higher Genetic Risk of Depression is a Greater Risk Factor for Cardiovascular Diseases in Females. 72nd Annual Scientific Meeting of the Cardiac Society of Australia and New Zealand, Perth, WA Australia, 1-4 August 2024. Chatswood, NSW Australia: Elsevier. doi: 10.1016/j.hlc.2024.06.412

Sex Matters in Cardiovascular Research: A Higher Genetic Risk of Depression is a Greater Risk Factor for Cardiovascular Diseases in Females

2024

Journal Article

Featured Cover

Chauquet, Solal, Willis, Emily F., Grice, Laura, Harley, Samuel B. R., Powell, Joseph E., Wray, Naomi R., Nguyen, Quan, Ruitenberg, Marc J., Shah, Sonia and Vukovic, Jana (2024). Featured Cover. Aging Cell, 23 (7). doi: 10.1111/acel.14279

Featured Cover

2024

Conference Publication

Perceptions of South Asian Australians Towards Genetic Testing for Cardiovascular Disease

Nathan, V., Gilroy, D., Naresh, R., Akbar, H., Shah, S. and Yanes, T. (2024). Perceptions of South Asian Australians Towards Genetic Testing for Cardiovascular Disease. 72nd Annual Scientific Meeting of the Cardiac Society of Australia and New Zealand, Perth, WA Australia, 1-4 August 2024. Chatswood, NSW Australia: Elsevier. doi: 10.1016/j.hlc.2024.04.199

Perceptions of South Asian Australians Towards Genetic Testing for Cardiovascular Disease

2024

Journal Article

Exercise rejuvenates microglia and reverses T cell accumulation in the aged female mouse brain

Chauquet, Solal, Willis, Emily F., Grice, Laura, Harley, Samuel B. R., Powell, Joseph E., Wray, Naomi R., Nguyen, Quan, Ruitenberg, Marc J., Shah, Sonia and Vukovic, Jana (2024). Exercise rejuvenates microglia and reverses T cell accumulation in the aged female mouse brain. Aging Cell, 23 (7) e14172, e14172. doi: 10.1111/acel.14172

Exercise rejuvenates microglia and reverses T cell accumulation in the aged female mouse brain

2024

Conference Publication

Monogenic and polygenic contributions to early onset advanced heart failure based on whole genome sequencing

Linner, E., Czuba, T., Gidlof, O., Lundgren, J., Bollano, E., Hellberg, M., Celik, S., Pimpalwar, N., Rentzsch, P., Martorella, M., Gummessson, A., Melander, O., Albinsson, S., Dellgren, G., Boren, J., Jeppsson, A., Lumbers, T., Shah, S., Nilsson, J., Natarajan, P., Lappalainen, T., Levin, M., Ehrencrona, H. and Smith, J. (2024). Monogenic and polygenic contributions to early onset advanced heart failure based on whole genome sequencing. ISHLT 44th Annual Meeting and Scientific Sessions, Prague, Czech Republic, 10-13 April 2024. Philadelphia, PA, United States: Elsevier.

Monogenic and polygenic contributions to early onset advanced heart failure based on whole genome sequencing

2024

Journal Article

Proprotein convertase subtilisin/kexin type 9 as a drug target for abdominal aortic aneurysm

Golledge, Jonathan, Lu, Hong S. and Shah, Sonia (2024). Proprotein convertase subtilisin/kexin type 9 as a drug target for abdominal aortic aneurysm. Current Opinion in Lipidology, 35 (5), 241-247. doi: 10.1097/MOL.0000000000000945

Proprotein convertase subtilisin/kexin type 9 as a drug target for abdominal aortic aneurysm

2023

Journal Article

Phenotypic but not genetically predicted heart rate variability associated with all-cause mortality

Tegegne, Balewgizie S., Said, M. Abdullah, Ani, Alireza, van Roon, Arie M., Shah, Sonia, de Geus, Eco J. C., van der Harst, Pim, Riese, Harriëtte, Nolte, Ilja M. and Snieder, Harold (2023). Phenotypic but not genetically predicted heart rate variability associated with all-cause mortality. Communications Biology, 6 (1) 1013, 1-10. doi: 10.1038/s42003-023-05376-y

Phenotypic but not genetically predicted heart rate variability associated with all-cause mortality

2023

Journal Article

Investigating the potential anti-depressive mechanisms of statins: a transcriptomic and Mendelian randomization analysis

Jiang, Jiayue-Clara, Hu, Chenwen, McIntosh, Andrew M. and Shah, Sonia (2023). Investigating the potential anti-depressive mechanisms of statins: a transcriptomic and Mendelian randomization analysis. Translational Psychiatry, 13 (1) 110, 110. doi: 10.1038/s41398-023-02403-8

Investigating the potential anti-depressive mechanisms of statins: a transcriptomic and Mendelian randomization analysis

2022

Journal Article

Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease

Cadby, Gemma, Giles, Corey, Melton, Phillip E., Huynh, Kevin, Mellett, Natalie A., Duong, Thy, Nguyen, Anh, Cinel, Michelle, Smith, Alex, Olshansky, Gavriel, Wang, Tingting, Brozynska, Marta, Inouye, Mike, McCarthy, Nina S., Ariff, Amir, Hung, Joseph, Hui, Jennie, Beilby, John, Dubé, Marie-Pierre, Watts, Gerald F., Shah, Sonia, Wray, Naomi R., Lim, Wei Ling Florence, Chatterjee, Pratishtha, Martins, Ian, Laws, Simon M., Porter, Tenielle, Vacher, Michael, Bush, Ashley I. ... Moses, Eric K. (2022). Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease. Nature Communications, 13 (1) 3124, 1-17. doi: 10.1038/s41467-022-30875-7

Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease

2021

Journal Article

The genomics of heart failure: design and rationale of the HERMES consortium

Lumbers, R. Thomas, Shah, Sonia, Lin, Honghuang, Czuba, Tomasz, Henry, Albert, Swerdlow, Daniel I., Mälarstig, Anders, Andersson, Charlotte, Verweij, Niek, Holmes, Michael V., Ärnlöv, Johan, Svensson, Per, Hemingway, Harry, Sallah, Neneh, Almgren, Peter, Aragam, Krishna G., Asselin, Geraldine, Backman, Joshua D., Biggs, Mary L., Bloom, Heather L., Boersma, Eric, Brandimarto, Jeffrey, Brown, Michael R., Brunner‐La Rocca, Hans‐Peter, Carey, David J., Chaffin, Mark D., Chasman, Daniel I., Chazara, Olympe, Chen, Xing ... Regeneron Genetics Center (2021). The genomics of heart failure: design and rationale of the HERMES consortium. ESC Heart Failure, 8 (6) ehf2.13517, 5531-5541. doi: 10.1002/ehf2.13517

The genomics of heart failure: design and rationale of the HERMES consortium

2021

Journal Article

Association of antihypertensive drug target genes with psychiatric disorders: a Mendelian randomization study

Chauquet, Solal, Zhu, Zhihong, O'Donovan, Michael C., Walters, James T. R., Wray, Naomi R. and Shah, Sonia (2021). Association of antihypertensive drug target genes with psychiatric disorders: a Mendelian randomization study. JAMA Psychiatry, 78 (6), 623-631. doi: 10.1001/jamapsychiatry.2021.0005

Association of antihypertensive drug target genes with psychiatric disorders: a Mendelian randomization study

2020

Journal Article

A genetic model of ivabradine recapitulates results from randomized clinical trials

Legault, Marc-André, Sandoval, Johanna, Provost, Sylvie, Barhdadi, Amina, Lemieux Perreault, Louis-Philippe, Shah, Sonia, Lumbers, R. Thomas, de Denus, Simon, Tyl, Benoit, Tardif, Jean-Claude and Dubé, Marie-Pierre (2020). A genetic model of ivabradine recapitulates results from randomized clinical trials. PLOS ONE, 15 (7) e0236193, e0236193. doi: 10.1371/journal.pone.0236193

A genetic model of ivabradine recapitulates results from randomized clinical trials

2020

Journal Article

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjörnsson, Garðar, Fatemifar, Ghazaleh, Hedman, Åsa K., Wilk, Jemma B., Morley, Michael P., Chaffin, Mark D., Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G., Ärnlöv, Johan, Backman, Joshua D., Biggs, Mary L., Bloom, Heather L., Brandimarto, Jeffrey, Brown, Michael R., Buckbinder, Leonard, Carey, David J., Chasman, Daniel I., Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William ... Lumbers, R. Thomas (2020). Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. Nature Communications, 11 (1) 163, 163. doi: 10.1038/s41467-019-13690-5

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

2018

Journal Article

Identification of 55,000 replicated DNA methylation QTL

McRae, Allan F., Marioni, Riccardo E., Shah, Sonia, Yang, Jian, Powell, Joseph E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Bowdler, Lisa, Painter, Jodie N., Murphy, Lee, Martin, Nicholas G., Starr, John M., Wray, Naomi R., Deary, Ian J., Visscher, Peter M. and Montgomery, Grant W. (2018). Identification of 55,000 replicated DNA methylation QTL. Scientific Reports, 8 (1) 17605, 17605. doi: 10.1038/s41598-018-35871-w

Identification of 55,000 replicated DNA methylation QTL

2017

Journal Article

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu ... Fan, Dongsheng (2017). Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 (1) 611, 611. doi: 10.1038/s41467-017-00471-1

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

2017

Journal Article

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

Garton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong-Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R. and McCombe, Pamela A. (2017). Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Molecular Genetics and Genomic Medicine, 5 (4), 418-428. doi: 10.1002/mgg3.302

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

2017

Journal Article

A genomic atlas of human adrenal and gonad development

Del Valle, Ignacio, Buonocore, Federica, Duncan, Andrew J., Lin, Lin, Barenco, Martino, Parnaik, Rahul, Shah, Sonia, Hubank, Mike, Gerrelli, Dianne and Achermann, John C. (2017). A genomic atlas of human adrenal and gonad development. Wellcome Open Research, 2 25, 1-42. doi: 10.12688/wellcomeopenres.11253.2

A genomic atlas of human adrenal and gonad development

2017

Journal Article

Epigenetic patterns in blood associated with lipid traits predict incident coronary heart disease events and are enriched for results from genome-wide association studies

Hedman, Åsa K., Mendelson, Michael M., Marioni, Riccardo E., Gustafsson, Stefan, Joehanes, Roby, Irvin, Marguerite R., Zhi, Degui, Sandling, Johanna K., Yao, Chen, Liu, Chunyu, Liang, Liming, Huan, Tianxiao, McRae, Allan F., Demissie, Serkalem, Shah, Sonia, Starr, John M., Cupples, L. Adrienne, Deloukas, Panos, Spector, Timothy D., Sundstrom, Johan, Krauss, Ronald M., Arnett, Donna K., Deary, Ian J., Lind, Lars, Levy, Daniel and Ingelsson, Erik (2017). Epigenetic patterns in blood associated with lipid traits predict incident coronary heart disease events and are enriched for results from genome-wide association studies. Circulation: Cardiovascular Genetics, 10 (1) 001487. doi: 10.1161/CIRCGENETICS.116.001487

Epigenetic patterns in blood associated with lipid traits predict incident coronary heart disease events and are enriched for results from genome-wide association studies

2017

Journal Article

Association of body mass index with DNA methylation and gene expression in blood cells and relations to cardiometabolic disease: a Mendelian randomization approach

Mendelson, Michael M., Marioni, Riccardo E., Joehanes, Roby, Liu, Chunyu, Hedman, Åsa K., Aslibekyan, Stella, Demerath, Ellen W., Guan, Weihua, Zhi, Degui, Yao, Chen, Huan, Tianxiao, Willinger, Christine, Chen, Brian, Courchesne, Paul, Multhaup, Michael, Irvin, Marguerite R., Cohain, Ariella, Schadt, Eric E., Grove, Megan L., Bressler, Jan, North, Kari, Sundstrom, Johan, Gustafsson, Stefan, Shah, Sonia, McRae, Allan F., Harris, Sarah E., Gibson, Jude, Redmond, Paul, Corley, Janie ... Deary, Ian J. (2017). Association of body mass index with DNA methylation and gene expression in blood cells and relations to cardiometabolic disease: a Mendelian randomization approach. PLoS Medicine, 14 (1) e1002215, e1002215. doi: 10.1371/journal.pmed.1002215

Association of body mass index with DNA methylation and gene expression in blood cells and relations to cardiometabolic disease: a Mendelian randomization approach

Funding

Current funding

  • 2024 - 2029
    AAA-Medical: Integrating Synergistic Expertise For Better Treatment Of Abdominal Aortic Aneurysm (NHMRC Synergy Grant administered by James Cook University)
    James Cook University
    Open grant
  • 2024 - 2027
    ACTIVATION OF AMPK TO TREAT ABDOMINAL AORTIC ANEURYSM (5As) (MRFF Cardiovascular Health Grant administered by James Cook University)
    James Cook University
    Open grant
  • 2022 - 2025
    Preparing Australia for use of genomics in prevention of heart-disease: Focus on South Asian Australians
    NHMRC MRFF Genomics Health Futures Mission
    Open grant
  • 2022 - 2027
    The Australian Genetic Diversity Database: towards a more equitable future for genomic medicine in Australia (MRFF Genomics Health Futures Mission grant administered by UNSW)
    University of New South Wales
    Open grant
  • 2022 - 2026
    TRIAGE: A disease agnostic computational and modelling platform to accelerate variant classification
    NHMRC MRFF Genomics Health Futures Mission
    Open grant
  • 2022 - 2026
    Use genetic and genomic data to improve the understanding, prevention and treatment of cardiovascular disease
    National Heart Foundation Future Leader Fellowship
    Open grant
  • 2021 - 2025
    Liver Transcriptomics Research
    Research Donation Generic
    Open grant

Past funding

  • 2023
    DEVELOPING UQ's FIRST HIGH-THROUGHPUT GENOMICS PIPELINE FOR DRUG DISCOVERY
    UQ Foundation Research Excellence Awards
    Open grant
  • 2021 - 2022
    Evaluating the utility of polygenic risk scores within the Queensland Cardiac Genetics Clinic
    UQ Knowledge Exchange & Translation Fund
    Open grant
  • 2021 - 2023
    Identifying unintentional effects of medication using statistical genetics analyses of large-scale genetic and genomic data
    NHMRC IDEAS Grants
    Open grant
  • 2019 - 2022
    A Systems Epidemiology Approach To Define Metabolic And Genomic Determinants Of Alzheimer's Disease (NHMRC Project Grant administered by Baker Institute)
    Baker IDI Heart & Diabetes Institute
    Open grant
  • 2018 - 2021
    Healthy heart, healthy brain - using genetic data to investigate the causal relationship between cardiovascular and neurodegenerative disease
    NHMRC Early Career Fellowships
    Open grant

Supervision

Availability

Dr Sonia Shah is:
Available for supervision

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Supervision history

Current supervision

  • Doctor Philosophy

    Using Genetics and Artificial Intelligence to Support Disease Prediction and Diagnosis

    Principal Advisor

  • Doctor Philosophy

    Using genomics to predict the mechanism-of-action of a chemical entity

    Principal Advisor

    Other advisors: Professor Irina Vetter

  • Doctor Philosophy

    Understanding genetic adaptation of the heart to extreme environments

    Associate Advisor

    Other advisors: Associate Professor Nathan Palpant

Completed supervision

Media

Enquiries

Contact Dr Sonia Shah directly for media enquiries about:

  • cardiovascular disease
  • genetics
  • genomics

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