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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.
We propose an integrated program of bioinformatics research and capacity building focused on functional genomics. We will address research problems in the analysis and interpretation of high-volume genomic and proteomic data, in comparative sequence analysis, in determining the relation between genotype and phenotype using mutagenesis screens, and in making effective use of single nucleotide polymorphisms. Our capacity building will focus on the research training of students (undergraduates thro ....We propose an integrated program of bioinformatics research and capacity building focused on functional genomics. We will address research problems in the analysis and interpretation of high-volume genomic and proteomic data, in comparative sequence analysis, in determining the relation between genotype and phenotype using mutagenesis screens, and in making effective use of single nucleotide polymorphisms. Our capacity building will focus on the research training of students (undergraduates through the UROP scheme, honours and PhD) and postdoctoral scholars.Read moreRead less
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.
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.
We have entered an era where it is now possible to sequence an individual's genetic blueprint. In the case of cancer this can be used to determine the genetic damage that has occurred in cancer cells. This fellowship seeks to carry out large scale sequencing of cancer patient and map out the genetic damage that is common to get a handle on what drives the disease. It will also investigate how personalized mutation detection might improve cancer treatment selection for individual patients.
Discovering The Function And Structure Of RIO Kinases – Toward New Nematocides
Funder
National Health and Medical Research Council
Funding Amount
$545,477.00
Summary
This project is focused on: high quality fundamental molecular science, contributing to national objectives, including the development of novel and innovative scientific concepts and international collaborations; consolidating links between basic and applied research; enhancing the skills-base in molecular biology and global visibility of Australian science.
Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less
The Australia Medical Bioinformatics Resource (AMBeR)
Funder
National Health and Medical Research Council
Funding Amount
$2,185,000.00
Summary
This proposal is to build a new national medical bioinformatics resource - the Australian Medical Bioinformatics Resource (AMBeR) - and to enhance the national capacity in this important area. We aim to bring together Australia's unique resources for genetic epidemiology and genomics with high level expertise in bioinformatics and statistical science, conduct advanced methodological research, develop new research capacity and competitiveness in cutting-edge techniques, bring them to bear on impo ....This proposal is to build a new national medical bioinformatics resource - the Australian Medical Bioinformatics Resource (AMBeR) - and to enhance the national capacity in this important area. We aim to bring together Australia's unique resources for genetic epidemiology and genomics with high level expertise in bioinformatics and statistical science, conduct advanced methodological research, develop new research capacity and competitiveness in cutting-edge techniques, bring them to bear on important medical research problems, train young Australians in bioinformatics and advanced biostatistics, and transfer this expertise to the medical research community.Read moreRead less
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.