Harnessing The Power Of Genomics To Understand Disease
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
The last 10 years have seen a revolution in our ability to sequence DNA and related molecules. This technological advancement has the potential to transform our knowledge of the mechanisms of development and disease. In order to harness the power of this technology, advances in analysis strategies and methods are critical to extract the important insights into these massive data sets. My research will lead the way in several major areas of bioinformatics research.
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.
Using High-throughput Genomics To Reveal The Deleterious Genetic Changes That Underlie Paediatric Leukoencephalopathies
Funder
National Health and Medical Research Council
Funding Amount
$1,003,712.00
Summary
There has been an explosion of high-throughput DNA sequencing technologies in the past five years, which have the potential to completely revolutionise medicine and scientific research. Here we present a series of studies showing the successful application of this technology to children with genetic disorders of the central nervous system. This proposal seeks to expand this study to a large cohort of similarly affected paediatric patients.
Computational Approaches To Making Sense Of Cancer -omics Data
Funder
National Health and Medical Research Council
Funding Amount
$706,370.00
Summary
Evolution is a hallmark of cancer. It underlies tumorigenesis, metastasis, disease progression, the emergence of drug resistance, and patient death. My research will develop the essential bioinformatics methods and computational models to understand cancer evolution using -omics data, and apply these to discover the molecular mechanisms that cause complex genome rearrangements; investigate the evolution of advanced melanoma; and translate our tools and discoveries into the clinical setting.
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.
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
This project seeks to evaluate the role of new cell growth regulating pathway in the development of moles and melanoma. In particular, we will determine at which stage during tumour progression disruption of this pathway occurs, and whether its loss is associated with melanoma patient survival. Identification of the cancer-related changes that occur when this pathway is aberrant may ultimately lead to the development of novel therapies to treat melanoma.
Large-Scale Multi-Omic Analysis And Risk Prediction Of Complex Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$321,414.00
Summary
A major aim of medicine is to prevent disease, which is often more successful and cost-effective than treating an already existing condition. Common diseases, such as autoimmune and cardiovascular diseases, have a predisposing genetic basis. We will conduct genetic analysis of large datasets of coeliac disease and cardiovascular disease to better identify individuals at increased risk and to better understand the underlying biological processes through which genetics act to affect one's risk.
Development And Application Of A Novel Technology, CaptureSeq, To Focus Sequencing To Discover Genes In ‘empty’ Genomic Regions Associated With Disease.
Funder
National Health and Medical Research Council
Funding Amount
$421,747.00
Summary
Dr. Mercer will develop a new technology, CaptureSeq that is able to focus RNA sequencing on targeted regions of interest. This focus gives CaptureSeq an unprecedented sensitivity to discover new genes and regulatory elements in regions of the genome that have been associated with disease but are otherwise barren and empty. This project will thereby uncover both new genes candidates for further disease research and develop a technology with unique and widespread research and clinical potential.
Discovery Early Career Researcher Award - Grant ID: DE220100230
Funder
Australian Research Council
Funding Amount
$365,000.00
Summary
Investigating the Genetic Basis of Human Intrinsic Capacity. Intrinsic capacity is a new concept introduced by experts at the World Health Organisation to promote healthy ageing. It is defined as the composite of an individual’s physical and mental capacities, based on measures of five criteria; cognitive, sensory, locomotor, vitality and psychological. It is a genetically predetermined trait, but is influenced by a range of environmental stimuli. Applying a cutting-edge genetic methodology on b ....Investigating the Genetic Basis of Human Intrinsic Capacity. Intrinsic capacity is a new concept introduced by experts at the World Health Organisation to promote healthy ageing. It is defined as the composite of an individual’s physical and mental capacities, based on measures of five criteria; cognitive, sensory, locomotor, vitality and psychological. It is a genetically predetermined trait, but is influenced by a range of environmental stimuli. Applying a cutting-edge genetic methodology on big biobank datasets, this project aims to examine the role of genetics and the environment to explain the variability of intrinsic capacity between individuals. Understanding the biological basis of intrinsic capacity has major implications for scientific research in healthy ageing and mental wellbeing.Read moreRead less