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I am a molecular geneticist with a primary focus on the identification of genes and sequence variants underlying susceptibility to, and progression of, various tumour types _ in particular tumours of the skin (moles and melanoma), oesophagus, ovary, lung
Clinical Application Of Genomic Approaches For Cancer
Funder
National Health and Medical Research Council
Funding Amount
$707,370.00
Summary
Cancer is the cause of 1 in 8 deaths worldwide. Cancer occurs due to errors or mutations in the DNA of normal cells. I will identify the mutations in tumour cells, which will tell us: i) How the tumour started and grew ii) How to treat the tumour and kill the cancer The work involves a variety of cancer types including mesothelioma, melanoma, oesophageal and breast cancer. The overall aim is to apply some of the research findings or approaches into patient care to improve patient survival.
Novel Genomic Approaches To Identify The Missing Genetics Underlying Skeletal Muscle Disease.
Funder
National Health and Medical Research Council
Funding Amount
$1,935,965.00
Summary
Skeletal muscle diseases can result in death in infancy or cause life-long and significant physical disability. Many families do not have a genetic explanation for their condition. We will use established and new technologies to find the missing genetics causing these devastating diseases. Our work has world-wide impact for the patients and families affected by these diseases.
Comparative And Evolutionary Genomics Of Schistosomes –Identifying Genes Associated With Parasitism, And Novel Drug And Vaccine Targets
Funder
National Health and Medical Research Council
Funding Amount
$352,229.00
Summary
Schistosomiasis remains an important cause of human illness and death globally. My project proposes comparative genomics and evolutionary analysis of recently sequenced schistosome taxa and all publicly available flatworm genomes. The study will provide novel insights into identifying gene functions and pathways important for the parasite-host interaction, reveal novel candidate anti-schistosome drug or vaccine targets, and identify genes associated with bladder tumorogenesis in S. haematobium.
Epigenetic Hyperglycemic Cell Memory Causes Vascular Complications In Type 1 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$332,140.00
Summary
This project seeks to identify how epigenetic change in response to hyperglycemia can cause vascular complications of diabetes, and how this contributes to “hyperglycemic memory”; a phenomena where cells may undergo gene modifications which increase risk to further complications later in a patients life. These studies are the first of their kind and will characterize the types of epigenetic change that can cause human disease.
Using Systems Biology To Model And Predict Human Diseases
Funder
National Health and Medical Research Council
Funding Amount
$423,326.00
Summary
In the last decade, technological advances have driven the study of biology towards the statistical and computational sciences. Researchers are now able to differentiate and quantify biomolecules at levels previously unimaginable, allowing us to study their interactions and relationships to health and disease in an unbiased, systems-level manner. With expertise in bioinformatics, biostatistics and systems biology, I am uniquely placed to address these challenges.
Towards Better Treatments For Acral Melanoma Through Functional Genomics
Funder
National Health and Medical Research Council
Funding Amount
$1,456,823.00
Summary
Acral melanoma is an uncommon melanoma subtype with bad prognosis that has been poorly characterised at the molecular level. The project will conduct comprehensive analysis of acral melanoma at the DNA, RNA and protein levels. Through subsequent functional follow-up studies of key drivers of this cancer type we will identify novel drug targets to treat this disease.
Population Genetics And Functional Genomics Approaches To Improve Outcomes For Patients With Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$466,492.00
Summary
Colorectal cancer (CRC) is the third leading cause of cancer related death in Australia, and the 5-year survival rate for metastatic disease remains below 10%. Over the next 4 years, my translational research program will focus on improving patient outcomes in four ways: Discovery of inherited variants affecting CRC risk and progression, tumour molecular classification, discovery of markers for prognosis and drug response, and elucidation of the molecular mechanisms driving CRC development.
Identifying Novel Disease Genes In Abnormalities Of The Eye
Funder
National Health and Medical Research Council
Funding Amount
$123,454.00
Summary
The macula is located in the centre at the back of the eye and is essential for detailed and colour vision. There are familial forms of macular abnormalities and many elderly patients suffer from age-related macular degeneration. The gene function that is critical for the maintenance of a healthy macula is not fully known. In this project, a novel process in maintaining macular health will be investigated to identify the underlying genetic cause and associated functional defects.
Identification Of Genes Responsible For Disorders Of Sexual Development Using Genome-wide Copy Number Analysis
Funder
National Health and Medical Research Council
Funding Amount
$305,774.00
Summary
Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for the proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis or ovary development.