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.
Mechanistic And Functional Drivers Of Neochromosome Evolution
Funder
National Health and Medical Research Council
Funding Amount
$763,771.00
Summary
Neochromosomes are Frankenstein chromosomes--massive extra chromosomes that are stitched together from 100s of pieces of normal chromosomes. They are found in 3% of cancers, but are common in some types, such as liposarcoma. We have mapped their structure and found they form through punctuated chromosome shattering and gene amplification. We will investigate the precise molecular mechanisms that cause this and the recurrent transcriptional and epigenetic drivers lead to their formation.
Determining Shared Genetic Control Of RNA Transcription Across 45 Human Tissue Types
Funder
National Health and Medical Research Council
Funding Amount
$264,684.00
Summary
There is strong evidence that much of the genetic susceptibility to disease acts through altering way genes are turned into proteins via RNA transcripts. One important problem in using transcriptomic data to study diseases is that the genetic control of RNA transcription is known to vary between tissues. This study will use new methods and RNA data from 45 human tissues to show the degree of common genetic control for each RNA transcript between each pair of tissues.
Genetics To Function: Identifying Genes Mediating The Biological Effects Of Type 2 Diabetes GWAS SNPs
Funder
National Health and Medical Research Council
Funding Amount
$438,075.00
Summary
Rates of type 2 diabetes are rising dramatically, and current efforts are failing to stem its progression. More information about why the disease develops is urgently needed. We apply an innovative approach to accelerate the latest genetic discoveries in diabetes to understand the mechanism behind the disease process. This knowledge will lead to new ways to control diabetes through development of novel therapies.
Chronic pain will affect most of us at one point in our life, and there is a need for new drugs to manage this condition. The goal of this project is to use a combined state-of-the-art genetics approaches in fruit flies, mice, rats, and humans, to identify and validate new genes that contribute to chronic pain, with the clear long term possibility to develop new strategic therapies to treat chronic pain disease.
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.
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.
Does Mobile DNA Activity Contribute To Reproductive Failure?
Funder
National Health and Medical Research Council
Funding Amount
$389,076.00
Summary
One in four pregnancies in Australia will end in miscarriage. Infertility affects about 15% of Australian couples and is highly correlated with increasing maternal age. In this study, we will use cutting edge single-cell genomic approaches to investigate the activity of mobile DNA elements or “jumping genes” as a previously unexplored cause of reproductive failure, including spontaneous miscarriage and age-related female infertility.
Schizophrenia affects 1 in 100 people, and yet its causes remain largely unclear. To improve understanding, treatment and management of the disease, the team performing this research will evaluate whether mobile DNA elements found in our genome are activated by stress and thereby alter how brain cells work in individuals affected by schizophrenia. They will also test whether mobile DNA can be blocked by drugs, perhaps revealing new strategies to treat the disease.