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.
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.
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.
For Every Question, There Is An Answer: Application Of Genomic Sequencing And Functional Genomics For Disease Gene Discovery In Children With Orphan Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$99,682.00
Summary
My PhD study will look closely at the genes in a family to see what is different and whether this difference is the cause of rare health problems. I will focus on children with highly unique conditions in which intellectual disability/developmental delay is a key feature. My study is important because if I can find the exact cause of rare genetic conditions, then I hope to improve the welfare of patients and families affected by these types of conditions.
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.
Improving The Diagnosis Of Disorders Sex Development (DSD)
Funder
National Health and Medical Research Council
Funding Amount
$818,997.00
Summary
Disorders of sexual development (DSDs) are surprisingly common, and often result in genital abnormalities, gender mis-assignment, infertility and psychological trauma. We will use our expertise in human genetics, molecular cell and developmental biology, to find genes important for sex development, identify gene defects that cause DSD, and study their functions. We will liaise with clinicians to apply these findings to the accurate diagnosis and medical care of DSD in children.
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.