In recognition of her outstanding contributions to the health and medical research landscape in Australia, Professor Susan Clark, a Fellow of the Australian Academy of Science (FAA), has now been elected Fellow of the Australian Academy of Health and Medical Sciences (AAHMS).
Professor Clark is a worldwide pioneer of epigenetics – the study of the additional layer of instructions on DNA that organises and regulates gene activity. Her research has helped revolutionise the field through new technologies that profile DNA changes in early development and cancer, and has laid the groundwork for using epigenetics to detect and monitor cancer progression.
Having made seminal discoveries at the Garvan Institute of Medical Research for 15 years as Head of the Epigenetics Research Lab, Professor Clark is Leader of the Institute’s Genomics and Epigenetics Research Theme.
The Australian Academy of Health and Medical Sciences elects Fellows who have demonstrated distinguished professional achievement, outstanding leadership and significant and continuing involvement in health and medicine-related sciences in Australia. Professor Clark’s fellowship was announced today as part of the sixth annual AAHMS Annual General and Scientific Meeting.
Pioneering DNA discoveries
Shortly after completing her PhD in Biochemistry at the University of Adelaide, Professor Clark became intrigued by a novel concept: that a chemical modification to DNA called methylation could potentially play a role in regulating which genes were active or repressed; a process crucial to normal development but which can go awry in disease.
To embark on this new scientific frontier, today referred to as epigenetics, Professor Clark developed and used the technologies that allow researchers to study it. This included the development of bisulphite methylation sequencing – a technique that revolutionised epigenetic research – which Professor Clark’s team published in 1994 and which has been cited over 2,000 times. Bisulphite sequencing is now regarded as the gold standard technology for detecting genome-wide DNA methylation patterns.
Three years later, her team’s research demonstrated for the first time how the promoter of a critical tumour suppressor gene, called the retinoblastoma gene, was methylated and switched off in retinoblastoma tumours. This discovery kick-started the new field of cancer epigenetics, of which Professor Clark is now a world-leading expert.
Translational impact for cancer
In her current research, Professor Clark and her team are working to understand the epigenetic changes happening to DNA within cancer cells, and developing new experimental protocols for detecting these changes across the entire cancer genome.
Recently, her team uncovered complex epigenetic modifications, in non-coding areas of the genome, that impact the three-dimensional (3D) architecture of DNA to change long distant gene silencing and activation, which have provided new insights for disease diagnosis and treatment.
Professor Clark’s ongoing epigenetic research has wide implications for the management and detection of cancer. Her team has revealed new DNA methylation biomarkers that could be used to detect, monitor and prognose cancer progression. This work has led to numerous patents granted or filed to screen colorectal, prostate, ovarian and breast cancer.
One such blood-based test is for the gene mGSTP1. In a Phase 3 clinical trial of 600 patients with metastatic prostate cancer, Professor Clark and her team of clinical collaborators, found this biomarker could predict whether a patient’s cancer would respond to chemotherapy.
“We are finally beginning to understand the relationship between genetics and epigenetics: how alterations in the DNA sequence and alteration in epigenetics marks work together to modify the 3D architecture of DNA to cause de-regulation of gene expression and resulting cancer initiation and evolution,” says Professor Clark. “But I believe the in-roads we are making today will have a transformative impact in the treatment of cancer in years to come.”
Professor Chris Goodnow, Executive Director of the Garvan Institute, says: “The election to the AAHMS is a demonstration of the remarkable uplift that Sue’s research has contributed to Australia’s health and medical research ecosystem. Her leadership in epigenetics has left a lasting legacy on the strategic direction of the Garvan Institute, and will inspire this field for many generations to come.”