Ruth Stephens Gani Medal

Dr Sonia Shah, University of Queensland

Dr Sonia Shah’s research uses innovative statistical genomics approaches applied to human genomic and health data to advance understanding, improve prevention and identify new avenues for treatment for cardiovascular disease. Her research has led to new insights into heart failure biology and shifted our understanding of the genetic risk factors for familial hypercholesterolemia, impacting patient management in the UK. Dr Shah’s current research focuses on understanding cardiovascular risk in understudied groups, such as women and genetically diverse groups, in whom current tools for identifying high-risk individuals are less accurate, with the goal of developing more effective tools for disease prevention in these groups and ensuring more equitable translation of genomics research.

Dr Stephin Vervoort, Walter and Eliza Hall Institute of Medical Research

Accurate control of gene expression is essential for health and deregulation of these processes can result in disease. A key regulator of gene expression is RNA Polymerase II (RNAPII), an enzyme that reads our DNA’s genetic information. Mutations that affect RNAPII’s function can give rise to cancers, and RNAPII dysregulation is recognised as a hallmark of cancers. As such, the RNAPII pathway is a prime candidate for the development of novel anti-cancer treatments. Despite the importance of tightly regulated gene expression in biology, the mechanistic control of this process remains incompletely understood. Dr Stephin Vervoort’s innovative approach to understand RNAPII regulation uses genome-wide analyses paired with computational methods. His work has resulted in ground-breaking discoveries of fundamental regulatory mechanisms of RNAPII-driven gene expression, uncovering how these are dysregulated in cancer, and which component can be targeted therapeutically in cancer. Ultimately, he aims to develop drugs that prevent these cellular processes from malfunctioning.

Dr Loic Yengo, University of Queensland

Dr Loic Yengo has developed novel theory and statistical analysis methods and applied those to 'big data' in human genomics to address questions about the causes and consequences of human behaviour. He has discovered thousands of DNA variants that are associated with human traits and showed that the pattern of those variants in the human genome are in part the consequence of people seeking partners who are like themselves, in terms of, for example, height and the level of education. This is direct evidence that human behaviour has an effect on the human genome in subsequent generations. In addition, Dr Yengo has developed better analysis methods to study the effect of homozygosity in the human genome and has shown that the larger the proportion of a person’s genome that is homozygous, the more detrimental effects it has on traits that are associated with disease.

Professor Joseph Powell, Garvan Institute

An individual’s chance of developing a disease or health condition is due to differences in their DNA. These differences mean that some people develop diseases such as diabetes, while other do not. Professor Powell’s research is focused on understanding how these differences in DNA act at the level of individual cells – the building blocks of the human body. Gene expression – the mechanism by which information from DNA is translated into proteins – underscores the genetic risk for most diseases. Gene expression is controlled at an individual cell level, so ideally, analysis of gene expression should be performed using single cells. Professor Powell’s research uses single cell sequencing technology to investigate why diseases arise in different cell types, and how early-stage diseases can be diagnosed and treated by targeting the specific disease driving cell populations.

Associate Professor Marina Pajic, Garvan Institute of Medical Research and UNSW Sydney

Pancreatic cancer has an almost uniformly dismal outcome for patients, with only 7% surviving longer than 5 years. The survival rate has remained low for decades, highlighting the urgent need for innovative translational research into this disease. Dr Pajic and her group utilise rapidly evolving genomic technologies, innovative models of disease and patient tumour specimens to improve our understanding of how cancers develop, spread to distant sites (metastasise), and why so many of them are heavily resistant to treatment. This knowledge is used in turn to inform the design of novel, effective and personalised treatment options for pancreatic cancer, as well as other difficult-to-treat cancers, with the aim of patients getting the best treatment tailored based on the “molecular fingerprint” of their tumour.

Dr Justin Wong, Centenary Institute of Cancer Medicine and Cell Biology

Our DNA stores genetic information akin to an encyclopedia, and genes are the paragraphs. Like paragraphs, which are separated by spaces, our genes also contain spacer sequences known scientifically as introns. All of these features are important to ensure that messages are conveyed accurately in our cells. Dr Wong has made a significant discovery that the natural accurate positioning of spacers is important to control how genes are turned on or off. He has also discovered that a ‘punctuation mark’ called DNA methylation can instruct the accurate usage of spacer sequences. When these punctuation marks are applied, the spacer sequences are used to control what information is ‘whited out’, that is, which genes to turn off. The work by Dr Wong uncovers a novel way to control gene expression with vast therapeutic potential for cancers and other genetic diseases.

Dr Irina Voineagu, University of New South Wales Sydney

Dr Irina Voineagu's research has made significant contributions to the genetics of neurodevelopmental disorders, including work on molecular mechanisms of DNA instability, autism genomics and transcriptomics. Among her many research achievements to date, she has elucidated the role of DNA repeat expansions in neurodevelopmental disorders as well as identified a novel syndrome of intellectual disability caused by mutations in the CCDC22 gene. Most notably, in the first landmark large-scale transcriptome study of autistic brain, Dr Voineagu identified networks of genes that showed altered expression in autistic brain tissue.

2017

Associate Professor Sarah Medland, QIMR Berghofer Medical Research Institute Queensland

Associate Professor Medland is a Statistical Geneticist working on Neuroimaging genetics, Child & Adolescent Psychopathology and Women’s health. She plays a leading role and was instrumental in the formation of the ENIGMA brain imaging genetics consortium, which is currently the largest brain imaging study in the world. Her work in this area has significantly advanced our understanding of the ways that genetics influences the structure and function of the human brain. 

2016

Associate Professor Geoffrey John Faulkner, University of Queensland

Associate Professor Faulkner is a leading researcher in the field of genomics, where computers can be combined with high-throughput machines to analyse the DNA found in individual human cells. In recent work, Dr Faulkner and his team have discovered unusual genetic changes in neurons associated with the activity of mobile DNA, a type of ‘jumping gene’. This variation means that each neuron in the brain presents a unique genome that is slightly different to every other cell in the same person’s brain. Interestingly, the parts of the genome most important for neurons to function normally are the most likely to carry changes associated with mobile DNA activity. Associate Professor Faulkner’s work has major implications for how we view healthy brain function, and may provide opportunities to better understand mental health and neurodegenerative conditions.

2015

Dr Jian Yang, University of Queensland

Dr Yang has developed novel statistical analysis methods to show that individual differences between people for many characteristics are due to the cumulative effect of many genes. He solved the problem that genes identified from recent large-scale genetic studies explained only a small part of the genetic basis of characteristics such as height or susceptibility to disease. He has distributed his software tools widely and many researchers now apply his statistical genetic methods to their data.

2014

Winthrop Professor Ryan Lister, University of Western Australia

Professor Ryan Lister studies the epigenome, the millions of molecular signposts added to the genome to regulate the activity of the underlying genetic information. His development of key techniques to map the epigenome has enabled major advances in our understanding of its role in gene regulation in both plants and animals. Professor Lister’s investigation into epigenome dynamics during mammalian brain development has provided the first comprehensive maps of epigenome dynamics through mammalian brain development, in both humans and mice. His discoveries provide an essential foundation to understanding the role of the epigenome in mammalian gene regulation and brain development.

2013

Professor Aleksandra Filipovska, Western Australian Institute for Medical Research

Professor Filipovska has made significant contributions to the field of human mitochondrial gene expression. She has developed new technologies to investigate mitochondrial nucleic acids and the roles of proteins that regulate the expression of genes encoded on the mitochondrial DNA. Furthermore she has discovered several mitochondrial proteins that are important for energy production and consequently cell health. She has developed new tools to modulate mitochondrial gene expression and is using them currently as potential therapeutics for the treatment of diseases caused by mutations in the mitochondrial genome.

2012

Dr Manuel Ferreira, Queensland Institute of Medical Research

Dr Manuel Ferreira established the Australian Asthma Genetics Consortium, which recently carried out the largest asthma genetics study in Australia. This study, published in The Lancet, identified a gene – the interleukin-6 receptor – that has a more active version and a less active version. The more active version is more commonly found in asthmatics and contributes to inflammation. These findings suggest that a drug that reduces the activity of this gene – currently used to treat rheumatoid arthritis – may be effective in asthma.

2011

Dr Alicia Oshlack, The Walter and Eliza Hall Institute of Medical Research

Alicia Oshlack studies gene regulation using high throughput genomic technologies where expression from tens of thousands of genes can be detected simultaneously. She has made major advances in understanding human evolution and the biology of human genomes by comparing changes in gene expression levels between humans and apes. She has developed methodology specifically for gene expression analysis that can be applied to many aspects of human biology and medical genetics. She is pioneering analysis of new DNA sequencing technology for studying gene expression.

2010

Dr Stuart Macgregor, Queensland Institute of Medical Research

Stuart Macgregor is a statistical geneticist who has developed new methods and tools to analyse a wide range of diseases, ranging from schizophrenia to cancer and glaucoma. He is known for his work in relation to gene mapping, having developed ways to analyse pooled DNA for large-scale genetic association studies. This has led to the discovery of a new genetic risk variant in melanoma.

2009

Dr Marnie Blewitt, The Walter and Eliza Hall Institute of Medical Research

Marnie Blewitt has made major advances in our understanding of epigenetics – how we silence or activate particular regions of DNA to orchestrate normal development and prevent disease. She has identified new epigenetic mechanisms that influence how geneticists interpret the inheritance of phenotypic traits. She identified a new gene that regulates X-inactivation, the process by which expression of genes on the X-chromosome is equalised between male and female mammals, including humans.

She is also making major contributions to the epigenetic control of stem cell function and the possible therapeutic benefits arising from it.

2008

Dr Vanessa Hayes, Group Leader Cancer Genetics, Garvan Institute of Medical Research

Vanessa Hayes is an outstanding researcher with an enviable record in human genetics research. Following her early studies in identifying genetic risk factors for cervical and colorectal cancer, she demonstrated the importance of genetic polymorphisms in progression of HIV disease in the African population. Her recent work on genetic variations and prostate cancer risk is providing a major stimulus to the effective use of human genetics in prevention and treatment of this disorder. She has identified genetic markers associated with an increased risk of prostate cancer and the prediction of prostate cancer outcome.