Use Of The Norfolk Island Genetic Isolate For Disease Gene Mapping
Funder
National Health and Medical Research Council
Funding Amount
$978,500.00
Summary
This gene mapping study will use a unique founder effect population to investigate two major public health disorders. We aim to identify genes that play a role in migraine and in cardiovascular disease, using a population from Norfolk Island. The Norfolk Island community is a population of ~1200 permanent residents, the majority of whom are direct descendents of 18th century English Bounty mutineers and Polynesian women. We will undertake a full genome scan to identify migraine gene loci and QTL ....This gene mapping study will use a unique founder effect population to investigate two major public health disorders. We aim to identify genes that play a role in migraine and in cardiovascular disease, using a population from Norfolk Island. The Norfolk Island community is a population of ~1200 permanent residents, the majority of whom are direct descendents of 18th century English Bounty mutineers and Polynesian women. We will undertake a full genome scan to identify migraine gene loci and QTL that influence cardiovascular disease using samples from this population isolate.Read moreRead less
Statistical Methods And Algorithms For Analysis Of High-throughput Genetics And Genomics Platforms
Funder
National Health and Medical Research Council
Funding Amount
$1,557,500.00
Summary
Through rapid advances in high-throughput -omics technologies, the number of phenotypes and the number of genotypes in gene mapping studies are or will be orders of magnitudes larger than in previous studies. Current algorithms and analysis methods have not kept up with the speed of data collection, nor has the training of qualified researchers. We will develop quantitative trait loci (fine) mapping analysis methods and bioinformatics algorithms and train (post)graduates in these research areas.
High-Throughout Identification And Targeting Of New Breast Cancer Genes.
Funder
National Health and Medical Research Council
Funding Amount
$640,210.00
Summary
Recent studies have identified DNA sequence variations within the human genome that are associated with an increased risk or can influence the outcome of breast cancer. This research program will identify the key genes affecting cancer development and assess their contribution to cancer growth. I will then use this knowledge to assess their suitability for drug development. Understanding how our DNA contributes to breast cancer will provide new avenues for prevention or treatment.
Clinical Classification Of Regulatory Variants In Breast Cancer Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$536,966.00
Summary
Variations in our genes can confer a risk of diseases including breast cancer. Determining the clinical significance of these variations is a major and increasing challenge for genetic counselors and clinicians. This project will evaluate the clinical significance of variants in the control regions of breast cancer susceptibility genes. This research will inform the development of guidelines for interpreting such variants in a clinical setting.
Understanding The Regulation Of The Location Of Chromosomes Within The Nucleus
Funder
National Health and Medical Research Council
Funding Amount
$333,612.00
Summary
The nucleus of each human cell, despite being under 10µM in diameter, contains 46 chromosomes, each consisting of several centimeters of DNA. The organisation of chromosomes within the nucleus helps regulate which genes are switched on and off. Genes attached to the nuclear lamina, which lines the nuclear membrane, tend to be switched off. Mutations in the nuclear lamina cause several diseases, including progeria, resulting premature aging. I am interested in understanding why only certain regio ....The nucleus of each human cell, despite being under 10µM in diameter, contains 46 chromosomes, each consisting of several centimeters of DNA. The organisation of chromosomes within the nucleus helps regulate which genes are switched on and off. Genes attached to the nuclear lamina, which lines the nuclear membrane, tend to be switched off. Mutations in the nuclear lamina cause several diseases, including progeria, resulting premature aging. I am interested in understanding why only certain regions of the genome attach to the nuclear lamina.Read moreRead less
Nuclear Retention-and-release Of RNA: A Naturally-occurring Mechanism For Controlling Gene Expression
Funder
National Health and Medical Research Council
Funding Amount
$428,753.00
Summary
The deliberate retention of messenger RNA in the nucleus is a newly-discovered biological mechanism used by cells to control which genes are made into proteins, and when. This is a fundamental process in health and disease. The project will employ cutting edge molecular and cellular techniques to discover the principles underpinning nuclear retention. These insights will allow the development of new methods to spatially and temporally control gene expression in diverse gene therapy applications.
Post-GWAS Functional Characterisation Of Breast Cancer Susceptibility Loci
Funder
National Health and Medical Research Council
Funding Amount
$764,632.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known genes, suggesting that regulatory DNA sequences are responsible for the associated risk. The aim of this proposal is to identify and characterise these DNA sequences. Understanding how sequences variations in these regions contribute to breast cancer will provide novel avenues for therapy.
High-throughput Identification And Evaluation Of New Breast Cancer Genes From GWAS.
Funder
National Health and Medical Research Council
Funding Amount
$841,075.00
Summary
Recent studies have identified DNA markers within the human genome that are associated with an increased risk of breast cancer. Most of these markers are located in noncoding regions, therefore the key genes driving risk are not known. This proposal will identify the target genes at all breast cancer risk regions and assess how specific markers affect disease risk. Understanding how DNA variation contributes to breast cancer will provide new avenues for prevention or treatment.
Molecular Insights Into Long Noncoding RNA-protein Complexes: Important Gene Regulators In Cancer
Funder
National Health and Medical Research Council
Funding Amount
$388,927.00
Summary
Cancer cells turn good genes off and bad ones on: but how do they do this? Recent breakthroughs suggest that noncoding RNA, produced from so-called ‘junk’ DNA, is important. One such noncoding RNA forms paraspeckles, a novel component of the cell machinery. Here, we will pick apart the way paraspeckles are organised and function, to develop them as a prototype for designing anti-cancer treatments against noncoding RNAs.