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
Fields of research
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Funding
Current funding
Past funding
Supervision
Availability
- Dr Sonia Shah is:
- Available for supervision
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Supervision history
Current supervision
-
Doctor Philosophy
Using genomics to predict the mechanism-of-action of a chemical entity
Principal Advisor
Other advisors: Professor Irina Vetter
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Doctor Philosophy
Using Genetics and Artificial Intelligence to Support Disease Prediction and Diagnosis
Principal Advisor
-
Doctor Philosophy
Understanding genetic adaptation of the heart to extreme environments
Associate Advisor
Other advisors: Associate Professor Nathan Palpant
Completed supervision
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2024
Doctor Philosophy
Using Transcriptomics technologies in health-related research: Applications and Challenges
Principal Advisor
Other advisors: Dr Quan Nguyen
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2024
Doctor Philosophy
Using genomic data to advance understanding of heart failure aetiology
Principal Advisor
Other advisors: Professor Naomi Wray
Media
Enquiries
Contact Dr Sonia Shah directly for media enquiries about:
- cardiovascular disease
- genetics
- genomics
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