Meet some of our Invited Speakers

Dr Allan McRae leads the Systems Genomics theme in the Program in
Complex Trait Genomics at The University of Queensland. His research
focuses on the understanding of the genetic and environmental influences on variation in disease risk through the use of 'omics data. He has made important contributions to the understanding of transgenerational inheritance of DNA methylation and epigenetic aging in humans.
 

Anne established her laboratory at the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne in 2000 after post-doctoral positions at Cornell University, USA and the Max-Planck-Institute, Germany. From 2012-2018 Anne was Head of the Development and Cancer Division at the WEHI, and since 2019 is Joint Head of the Epigenetics and Development Division at the WEHI.

In 2015 Anne received the Elizabeth Blackburn Fellowship Award for Biomedical Science. 

Anne investigates the genetic regulation of embryonic development and adult stem cells with particular emphasis on transcriptional regulation through chromatin modifications in health and disease.

Professor Anthony Hannan is an NHMRC Principal Research Fellow and Head of the Epigenetics and Neural Plasticity Laboratory, Florey Institute of Neuroscience and Mental Health, University of Melbourne. Prof. Hannan received his undergraduate training and PhD in neuroscience from the University of Sydney.  He was then awarded a Nuffield Medical Fellowship at the University of Oxford, where he subsequently held other research positions before returning to Australia on an NHMRC RD Wright Career Development Fellowship to establish a laboratory at the Florey Institute. Prof. Hannan and colleagues provided the first demonstration in any genetic animal model that environmental stimulation can be therapeutic. This has led to new insights into gene-environment interactions in various brain disorders, including Huntington’s disease, dementia, depression, schizophrenia and autism spectrum disorders.  His research team at the Florey explores how genes and the environment combine via experience-dependent plasticity in the healthy and diseased brain. Their research includes models of specific neurological and psychiatric disorders which involve cognitive and affective dysfunction, investigated at behavioural, cellular and molecular levels so as to identify pathogenic mechanisms and novel therapeutic targets.

www.florey.edu.au/epigenetics-and-neural-plasticity-laboratory

Dr Novakovic is a molecular biologist with an interest in epigenetics of human immune cell function and disease. I am particularly interested in applying complementary epigenetic techniques to profile different aspects of chromatin structure and to integrate these data to explain biology. I have experience in the generation and analysis of comprehensive epigenomics data on human primary cells. I gained these skills during a 4 year postdoc at Radboud University (Nijmegen, The Netherlands), working on the EU funded BLUEPRINT project, which is part of the International Human Epigenome Consortium (IHEC). Since 2018 I am a Team Leader at MCRI, Melbourne Australia, where I apply epigenomic techniques to unique childhood cohorts to understand chronic disease development and vaccine response.

A/Prof Chen Davidovich is an EMBL-Australia Group Leader at Monash University, since 2015. His lab focused on structure-function studies of transcriptional repression, with an emphasis on molecular mechanisms, down to atomic resolution. He seeks to understand how genes are switched off and then maintained repressed through countless cell divisions. Through collaborations with international teams, the Davidovich lab already discovered how the histone methyltransferase polycomb repressive complex 2 (PRC2) binds to RNA and recognise RNA. The lab also discovered how PRC2 is regulated by its subunit PALI1 at the molecular level and identified a molecular basis for convergent evolution between PRC2 subunits. With PRC2 being one of the most studied chromatin modifiers in the context of RNA-mediated regulation and gene repression, these discoveries now enable mechanistic studies into transcriptional regulation.

From 2010 to 2015, Chen Davidovich conducted his postdoctoral research with Prof Tom Cech, at the Howard Hughes Medical Institute (HHMI) and the University of Colorado, Boulder. There, he entered into the field of long-noncoding RNAs (lncRNAs), which at that time was still new and wild. On 2010, lncRNAs were already proposed to regulate chromatin modifiers, although mechanisms were still vague. During his postdoc, Chen Davidovich was the first to quantify the affinity and specificity of PRC2 to RNA and provided the first evidence for promiscuous RNA binding by PRC2: a line of work that shifted the paradigm on how PRC2 is regulated by RNA. 

On 2010, Chen Davidovich awarded his PhD from the Weizmann Institute of Science, Israel, under the supervision of Prof Ada Yonath. There, he identified mechanisms for resistance and cross-resistance of bacteria to ribosomal antibiotics. His interest in protein-RNA interactions was largely sparked during those days while solving crystal structures of ribosome complexes.

The work led by Chen Davidovich disseminated in highly cited research papers, including in Cell, Mol Cell, Nature Struct Mol Biol, Nature Comms and PNAS. He previously awarded highly competitive fellowships and scholarships, including the Fulbright and Rothchild Fellowships, the Adams Scholarship and is a currently an EMBL-Australia Group Leader.

Dr Heather Lee completed her PhD at the Garvan Institute of Medical Research, where she investigated hormonal control of mammary gland development and breast cancer. Her research focused on the transcription factor, Elf5, which plays key roles in breast development during pregnancy and acquisition of anti-oestrogen resistance in breast cancer.

After discovering lineage-specific DNA methylation of the Elf5 promoter in the mammary epithelium, Heather decided to undertake post-doctoral research in the field of epigenetics.

In 2012, Heather relocated to Cambridge, UK, where she joined the laboratory of Professor Wolf Reik. Using mouse embryonic stem cells as an experimental model, she revealed unprecedented dynamic heterogeneity in DNA methylation. Heather also developed ground-breaking single-cell sequencing technologies for the parallel analysis of genome-wide DNA methylation and gene expression in the same single cell.

Heather joined the University of Newcastle in February 2017, where she leads a research group at the Hunter Medical Research Institute. Her current research focuses on epigenetic heterogeneity in acute myeloid leukaemia.

A/Prof. Irina Voineagu is an ARC Fellow and UNSW Scientia fellow. Dr. Voineagu obtained her Ph.D in Molecular Genetics from Univ. of Illinois at Chicago in 2008. Her postdoctoral research at University of California, Los Angeles included large-scale transcriptome analysis of autism brain tissue and research on the genetics of neurodevelopmental disorders. The ongoing work in her lab investigates the molecular genetic mechanisms underlying normal brain function with a focus on gene expression regulation, and their perturbation in neurodevelopmental disorders. 

Dr Jose Polo encourages us to think of the human genome as a library. As an epigeneticist, expert in the way changes occur in our genes beyond the basic structure of DNA, Jose believes who we are is dependent on how the smallest, most fundamental pieces of our biology are able to open and close the great books of our genetic library.

The field of epigenetics is a complex one, rooted in the mechanisms and structures of gene expression deep within our body's cells. To the uninitiated this world can seem inaccessible, and so Jose has become accustomed to explaining just what his work entails, and how its real-world applications could shape the future of medical science.

At its most fundamental, Jose's work is driven by a desire to identify what really makes a cell a cell.

While different cells of the body have the potential to make different organs, the genomes, a catalogue of our hereditary information encoded as DNA are exactly the same.

'How is the cell of the skin different to the cell of the heart?" Jose says.

"The answer is not the genome, which is common throughout the body, but the genes that are expressed. There is no such thing as naked DNA, it is inside a nucleus and wrapped around nucleosomes and forming different complexes with proteins giving rise to the chromatin. This packaging determines the transcription or 'readability' of the genes.

Through this concept of a gene's readability Jose's interpretation of the genome as a library takes shape.

'Both skin cells and heart cells have the same library - what is different are the books that can be read," Jose says.

"If each book is a gene, then whatever book is open is going to be transcribed. So if the keratinocyte (skin cells) books are open they get read and the cell become a keratinocyte,' Jose says.

Jose's work involves studying how these genetic books are opened and closed. He believes it is this process that makes us what we are - and what gives the cell its identity. And it this belief that offers a new direction for medical science.

Jose's desire to pursue this new line of thinking led him to leave his native Argentina for the US to do his PhD at Albert Einstein College of Medicine. Under the supervision of Dr. Ari Melnick, he investigated how a family of transcription factors inhibit the reading of certain genes and led to the development of an anti-lymphoma agent. This is now going to clinical trials to be developed into a therapeutic.

He then was recruited to the group of Konrad Hochedlinger at Harvard University to work in the epigenetic and cellular mechanisms that govern reprogramming of adults cells into induced pluripotent stem (iPS) cells.

His worked attracted the interest of the Monash community in Australia and he is currently group leader in the Department of Anatomy and Developmental Biology. Further developing his genetic ideas into the realm of stem cell science, Jose is exploring the possibilities that will come out of the department's collaborative environment. He has already planned collaborations with researchers within the centre, as well as at the Australian Regenerative Medicine Institute, CSIRO, the University of Michigan and Cornell University.

After completing a double degree in science and bioinformatics at La Trobe University, Jovana was employed at the Victorian Department of Primary Industries where she was involved in many diverse research projects and developed an interest in lactation biology. Jovana then undertook a PhD at Monash University investigating the expression and regulation of sialyltransferase genes in the mammary gland of several mammalian and marsupial species. She then went on to work as postdoctoral researcher at the Murdoch Children’s Research Institute where she focused on the analysis of high-throughput gene expression and epigenetic data and the development of new computational and statistical methods. She has published a number of methylation array analysis methods and jointly maintains missMethyl; a popular R Bioconductor package for analysing methylation array data. Jovana is currently based at the Peter MacCallum Cancer Centre where she continues to work on data analysis and the development of novel analysis methods.

Dr Katherine Pillman is a bioinformatician at the Centre for Cancer Biology in South Australia using a range of genomics next-generation sequencing data types to dissect gene regulation, including analysis of microRNA biology and targeting, circular RNAs, alternative splicing, epigenetic modifications, gene regulatory networks and expression.

She obtained her PhD in Molecular Biology from the University of Adelaide in 2009 working on transcriptional regulation of genes in barley plants. Her postdoctoral research at Oregon State University involved RNA-seq analysis of stress-responsive gene regulatory networks in potato plants, which fuelled her interest and transition into the field of Bioinformatics. In 2012, she returned to Australia to take up her current role, working in collaboration with Greg Goodall on gene regulatory mechanisms and networks in cancer with a focus on the epithelial-to-mesenchymal transition (EMT), highlights of which include a seminal paper in Cell which identified the first protein known to control the formation of circular RNAs and characterised circular RNAs during EMT. This protein, Quaking, is a key emerging player in circular splicing and linear alternative splicing in cancer (EMBO J). Other work has identified genome-wide microRNA regulatory networks controlling cell invasion (EMBO J) and uncovered the cooperative role of microRNAs in cancer (Nucleic Acids Research and Cell Systems).

Associate Professor Kim-Anh Lê Cao’s research embraces a multidisciplinary approach, focussing on mathematical and statistical modelling of diverse and large biological datasets to gain new insights into the molecular mechanisms regulating biological processes. She has developed cutting-edge statistical and computational methods to integrate ‘omics datasets generated by a broad range of new frontier molecular technologies, and to interrogate these large datasets to answer complex biological questions. Associate Professor Kim-Anh Lê Cao is an expert in multivariate statistical methods and develops novel methods for ‘omics data integration. Since 2009, her team has been working on developing the R toolkit mixOmics dedicated to the integrative analysis of `omics' data to help researchers mine and make sense of biological data (http://www.mixOmics.org).

Associate Professor Kim-Anh Lê Cao graduated from her PhD in 2008 at the Université de Toulouse, France. She received an award for her PhD thesis in Applied Statistics by the French Statistical Society prize (triennial) in 2009.  Soon after her graduation she moved to Australia and was appointed as a postdoctoral research fellow at the Institute for Molecular Bioscience, University of Queensland (UQ), then worked as Research Biostatistician at QFAB Bioinformatics. In 2014 Associate Professor Lê Cao was hired at the biomedical research UQ Diamantina Institute and was awarded an NHMRC Career Development Fellowship. In 2017, she joined the University of Melbourne, as a Senior Lecturer at the School of Mathematics and Statistics, and Melbourne Integrative Genomics that hosts biology-focussed researchers with strong statistical and computational skills.

Our lab deals with a host of topics in the general fields of molecular evolution and genetics. Among the topics that are currently pursued are:

Human evolution. Recent advances in ancient DNA sequencing yielded genomes (either shotgun sequences with varying degrees of coverage, or SNP arrays) of many ancient anatomically modern humans, as well as of Neanderthals and Denisovans. This open unique opportunities to study the genetic aspects of the very recent lag of our own evolution.

Paleo-epigenetics. We developed a technique to reconstruct full DNA methylation maps from high-coverage ancient genomes, and use it to study evolutionary changes in gene regulation, ancient environments and phenotypic adaptations.

Our lab deals with a host of topics in the general fields of molecular evolution and genetics. Among the topics that are currently pursued are:

• Human evolution. Recent advances in ancient DNA sequencing yielded genomes (either shotgun sequences with varying degrees of coverage, or SNP arrays) of many ancient anatomically modern humans, as well as of Neanderthals and Denisovans. This open unique opportunities to study the genetic aspects of the very recent lag of our own evolution.

• Paleo-epigenetics. We developed a technique to reconstruct full DNA methylation maps from high-coverage ancient genomes, and use it to study evolutionary changes in gene regulation, ancient environments and phenotypic adaptations.

• Paleo-genetics. We study the genetic structure of ancient populations in Israel.

• RNA biology. We are studying many aspects of RNA biology, including splicing, nonsense-mediated decay, 3'-end processing, and circular RNAs.

• Multivariate data analysis. My lab is also active in some fields of applied mathematics: multivariate analysis, statistical pattern recognition, data visualization, and machine learning.

Professor Dawson is a clinician-scientist at the Peter MacCallum Cancer Centre and Centre for Cancer Research University of Melbourne. He is the program head of the Translational Haematology Program, Group leader of the Cancer Epigenetics Laboratory and Consultant Haematologist in the Department of Haematology. His research interest is studying the role of epigenetic regulators in the initiation, maintenance and progression of cancer. He is a fellow of the Royal Australasian College of Physicians and Royal College of Pathologists of Australasia. After completing his clinical training in Melbourne, Australia he was awarded the prestigious General Sir John Monash Fellowship and Cambridge Commonwealth Trust Fellowship, which he used to complete his PhD at the University of Cambridge. Following his PhD, he was awarded the inaugural Wellcome Trust Beit Prize Fellowship to pursue his research into epigenetic regulation of leukaemia stem cells. His research has identified new therapeutic strategies for a range of cancers and has helped set the platform for clinical trials with first in class epigenetic therapies. He is currently a Professor in the Sir Peter MacCallum Department of Oncology and Centre of Cancer Research at the University of Melbourne. He is the Sir Edward Dunlop Fellow for the Cancer Council of Victoria and a Howard Hughes Medical Institute International Research Scholar.  In recognition of his research achievements he has been elected into the Australian Academy of Health and Medical Sciences and received several prestigious awards including the Prime Minister’s Prize as Life Scientist of the year in 2020.

Mark earned his PhD at Swinburne University in the field of plant molecular genetics and completed an 8-year post-doctoral position at Baker Institute and Monash Uni using next gen sequencing to study the epigenetics of complex diseases including diabetes and heart disease. Currently, he is Lecturer of Bioinformatics and Biotechnology at Deakin University and research is focused on developing methods and datasets to better understand gene regulation in disease.

Marnie Blewitt completed her PhD with Prof. Emma Whitelaw at The University of Sydney, developing a sensitised mutagenesis screen for novel epigenetic modifiers in the mouse, for which she was awarded the Genetics Society of Australia DG Catcheside prize. Marnie took up a Peter Doherty Post-doctoral fellowship with Prof. Douglas Hilton at The Walter and Eliza Hall Institute. In her post-doctoral studies, she continued to work on the novel protein Smchd1 that she identified in her PhD, analysed its critical role in X inactivation, and studied the role of polycomb group proteins in hematopoietic stem cell function. This work earned her the AAS Gani medal and the L’Oreal Australia Women in Science fellowship 2009. In 2010, Marnie established her own group at The Walter and Eliza Hall Institute as an ARC QEII fellow, working on the molecular mechanisms of epigenetic control. She now jointly leads the Epigenetics and Development Division as a Viertel-Bellberry Senior Medical Research Fellow.

A/Prof Nir Eynon is NHMRC Emerging Investigator Fellow (2021-2025), a Career Development Fellow (2018-2021), a former ARC DECRA Fellow (2014-2016), and a group leader (Genetics, Epigenetics, and Exercise Group), at the Institute of Health and Sport (iHeS), Victoria University. Nir is also an Honorary Research Fellow at the Murdoch Children’s Research Institute, and an Associate Editor in BMC Genomics.

He earned his PhD degree with high distinction in 2010 from Porto University, Portugal. 

His main area of research is to identify epigenetic and genomic biomarkers that predict fitness changes and the ageing process, in healthy and diseased population, and he is leading the multi-centre Gene SMART (Skeletal Muscle Adaptive Response to Training) study www.vu.edu.au/speed-gene. 

Nir is currently supervising outstanding post-docs, PhD and honours students (including Dr Sarah Voisin recent recipient of NHMRC ECF (2019-22).

Nir has published 85 peer-reviewed scientific manuscripts in Applied Physiology, Sport Science, Genetics and Ageing journals, and 6 book chapters. He has more than 35 delivered key-note/invited presentations in international conferences regarding the influence of genetic and molecular factors on exercise.

Dr Phillippa Taberlay is a NHMRC Career Development Fellow and Senior Research Fellow in the School of Medicine, College of Health and Medicine. Her research centres on understanding distal regulatory elements and three-dimensional aspects of gene control, and uses cutting-edge methods to delineate mechanisms of epigenetic reprogramming in development, cancer and neurodegenerative disorders.

Biography

Phillippa attained her Bachelor of Science majoring in Biochemistry, Microbiology and Immunology from the University of Tasmania in 2002, and graduated with a Bachelor of Science (First Class Honours) in Biochemistry and Molecular Biology in 2003. She then joined the laboratory of Dr Adele Holloway where she sought to understand how leukaemic fusion proteins disrupt epigenetic mechanisms in Acute Myeloid Leukaemia and was awarded her PhD for this work from the Menzies Research Institute of the University of Tasmania in 2008.

Phillippa undertook her post-doctoral research training in the laboratory of Professor Peter Jones at the University of Southern California, USA (2008-2011). Her discovery that enhancer epigenetic states underpin cell reprogramming (Taberlay, Cell 2011) was an advance for the field that has shaped new theories of epigenetic regulation. Her early-career research has also received two prestigious Faculty of 1000 recommendations, and was named as one of the Top Clinical Advances 2012 (American Society of Clinical Oncology). Phillippa co-developed the NOMe-Seq technique, described as an “impressive” and “ingenious innovation” and named as a Top 10 Innovation of 2013 that has since been commercialised. In 2011, Phillippa established her research group within the Epigenetics Research Program at the Garvan Institute of Medical Research under Professor Susan Clark, where she developed several new independent and collaborative projects, including cutting-edge technologies to map higher-order (3D) genome structures inside cells.

Phillippa holds a highly competitive NHMRC Career Development Fellowship and has recently returned to the University of Tasmania to establisher her laboratory within the School of Medicine. She has published her work in prominent international journals including Cell, Genome Research, Cancer Cell and PNAS.

Associate Professor Rhys Allan is a laboratory head in the Immunology Division at the Walter and Eliza Hall Institute. He is passionate about unraveling the DNA circuitry that controls immune cell differentiation and function and believes that with this knowledge, we can generate better vaccines and also re-wire harmful immune cell responses such as those that develop in asthma, diabetes and lupus. Rhys completed his PhD at the University of Melbourne, during which time he was involved a series of studies that revealed how killer T cell responses are generated. In 2008, he obtained a prestigious NHMRC-INSERM fellowship to undertake post-doctoral training at Institut Curie, France working with Professor Sebastian Amigorena. There, in collaboration with Professor Genevieve Almouzni he identified an epigenetic silencing pathway that is critical for the phenotypic stability of the T cells that drive allergic asthma. In 2015, Rhys established his own group at The Walter and Eliza Hall Institute as an ARC Future Fellow. His laboratory has made a number of important discoveries about how gene expression is regulated in the immune system and uncovered potential targets for switching off allergic disease. He will present insights from his lab’s recent work studying the how the 3D genome is organised to regulate immune cell development. 

Ryan Lister leads a research group investigating the epigenome and cell identity, at the University of Western Australia and the Harry Perkins Institute of Medical Research. After receiving his PhD in Biochemistry and Molecular Biology from the University of Western Australia in 2005, Ryan undertook postdoctoral studies at The Salk Institute for Biological Studies in California, USA, where he developed and applied new genomics techniques to map the epigenome and transcriptome. Having returned to the University of Western Australia in 2012, Ryan’s laboratory is focused upon understanding the role of the epigenome in regulating cell identity, and developing molecular tools to manipulate the epigenome and gene activity to control cell functions.

Sarah is a Senior Postdoctoral Fellow at Victoria University. She works at the crossroad of epigenetics, genetics, statistics and bioinformatics, with particular focus on physical activity, nutrition and human health. In September 2016, she completed her PhD from Uppsala University and Pierre & Marie Curie University.

She has published 42 papers and recently developed an epigenetic clock for human skeletal muscle available as an R package (https://bioconductor.org/packages/release/bioc/html/MEAT.html). She has also developed a unique bioinformatics pipeline to systematically annotate the epigenome, and integrated complex genetic and epigenetic human data using the R statistical software. Her current research work and interest is epigenetic ageing, the epigenetic basis for the variable response to exercise training, sex-specific exercise responses, and statistical methods to develop personalised health interventions. She was recently awarded an NHMRC Early Career Fellowship and a Jack Brockhoff Early Career Medical grant that will allow her to discover epigenetic biomarkers of healthy ageing.

She keeps excellent collaborations with research leaders all over the world, as exemplified by her recent first author publication in the Journal of Cachexia, Sarcopenia and Muscle (impact factor = 12.5) and her co-author publication in Science Advances (impact factor = 11.5).

Dr Severine Lamon graduated from Lausanne University, Switzerland, in 2010. She has completed her post-doctoral training in Australia and is currently a Senior Lecturer within Deakin University’s School of Exercise and Nutrition Sciences. Severine is a molecular biologist by training. Her main research focus is the regulation of skeletal muscle mass with health and disease, and she has a particular interest in the role played by non-coding RNAs in the regulation of these processes. 

I am a Professor in Human Genetics and Biostatistics at UCLA. My methodological research area lies at the intersection of biostatistics, bioinformatics, computational biology, cancer research, genetics, epidemiology, machine learning, and systems biology. My group applies these methods to study a broad spectrum of diseases, e.g. aging research, cancer, cardiovascular disease, HIV, Huntington’s disease, neurodegenerative diseases.

Systems biology and systems genetics: My group develops and applies methods for analyzing and integrating gene expression-, DNA methylation-, microRNA, genetic marker-, and complex phenotype data. In particular, we developed weighted correlation network analysis (also known as weighted gene co-expression network analysis WGCNA), which is a systems biologic data analysis method for analyzing high dimensional “-omics” data. These methods also lend themselves for comparing different species at the genomic level. A lot of material including articles, R software tutorials, and youtube lectures can be found at https://horvath.genetics.ucla.edu/CoexpressionNetwork/.

Biomarker development: My group works on all aspects of biomarker development: data collection, novel data analysis methods, and biomarker validation studies. For example, we worked on genomic biomarkers of aging and age related diseases including cancer. We compared standard meta analysis methods with network based meta analysis methods.

Machine learning methods: We work both on supervised and unsupervised machine learning methods. For example, we developed the random generalized linear model (RGLM) predictor, random forest clustering and the cluster and propensity based approximation of a network (CPBA).

Genome wide association studies: I have long standing interest in developing and applying allelic association tests, e.g. I have worked on the family based association test (FBAT), see http://www.biostat.harvard.edu/fbat/fbat.htm. More recently my group is interested in enhancing GWAS studies and exome sequencing methods.

Epigenomics: Methods and applications surrounding epigenetic data (in particular DNA methylation data) to study human diseases (e.g. age related diseases). Epigenetics is the study of changes in gene expression or cellular phenotype, caused by mechanisms other than changes in the underlying DNA sequence.

Susan Clark is a molecular biologist by training and completed her BSc (Hons1) degree under the supervision of Drs Ken Reed and Lyn Dalgarno at the Australian National University, ACT, Australia in 1978. She studied for PhD (1982) in Biochemistry at University of Adelaide, South Australia, mapping and sequencing human histone genes, under the supervision of Dr Julian Wells.

Susan spent her postdoctoral years at Biotechnology Australia from 1983-1988 leading studies on the first recombinant vaccine development in Australia and eukaryotic expression of human inhibin, Il-3 and GMCSF. In 1992, she returned to basic research as Group Leader of the Gene Regulation Unit at the Kanematsu Laboratories, Royal Prince Alfred Hospital where she developed and implemented bisulphite sequencing for DNA methylation analysis. In 2000, she established and headed the Epigenetics Group at the Sydney Cancer Centre, Royal Prince Alfred Hospital and in 2004 moved her group to the Garvan Institute of Medical Research and initiated and led the growth of the Epigenetics Research Program in the Cancer Research Theme. In 2015 she was appointed the inaugural Head of the Genomics and Epigenetics Theme.

Her DNA methylation studies over the last twenty five years have initiated profound questions about the importance of epigenetics in early development and in disease, especially in cancer. Susan has made extensive ground-breaking discoveries relating to DNA methylation patterns in normal and cancer genomes, that have led to the commercialization of new methylation-based tests for early cancer detection. The techniques she pioneered in the early 1990s, including bisulphite sequencing, have revolutionised and now underpin the new era in epigen"omic" research. She was founding member of IHEC (International Human Epigenome Consortium) and led the formation and is president of the AEpiA (Australian Epigenetics Alliance).

She has a number of awards including the RPAH Research Medal (2002); the Julian Wells Medal (2003), for “outstanding contribution to gene action and genome structure”; the Ruby Payne-Scott Award (2004) for contribution of women in science; The German United Association Award for pioneering work in development of bisulphite sequencing; Australia’s “Top Ten” (NHMRC) Scientist Project Grant Award (2009); Rotary Award for Vocational Excellence (2012). She was awarded a NHMRC Senior Principal Research Fellowship (2014); elected a Fellow of the Australian Academy of Science (2015) and received a Cancer Institute NSW “Make a Difference award” (2015); awarded The Clive and Vera Ramaciotti Foundation: Medal of Excellence (2017), and in 2019 she was awarded a NHMRC Senior Principal Research Fellowship and received the NSW Premiers Prize for Excellence in Medical Biological Sciences.

Epigenetic modifications such as DNA methylation and histone marks are often relatively stable in differentiated and in adult tissues in the body, where they help to confer a stable cell identity on tissues. The process of epigenetic reprogramming, by which many of these marks are removed from DNA, is important for the function of embryonic stem cells and in reprogramming stem cells from adult tissue cells. When this erasure goes wrong there may be adverse consequences for healthy development and ageing, which can potentially extend over more than one generation.

Our insights into the mechanisms of epigenetic reprogramming may help with developing better strategies for stem cell therapies and to combat age related decline. We have also recently initiated work on epigenetic regulation of social behaviours in insects, where we are interested in how patterning and regulation of DNA methylation in the brain is linked with the evolution of sociality.