Genetic factors responsible for risk of breast and prostate cancer are largely unknown. Mutations in genes currently known to be associated with susceptibility only account for a small proportion of the familial aggregation of these cancers. I will be applying new genetic technology to population-based studies of cancer to identify new genetic and epigenetic markers of cancer risk. I will use this information to improve health care for families with prostate and breast cancer.
Genomic Risk Of Coeliac Disease In First-degree Relatives
Funder
National Health and Medical Research Council
Funding Amount
$631,757.00
Summary
Coeliac disease is a common and strongly genetically determined inflammatory disorder triggered by gluten exposure. Because of its substantial genetic component, familial risk is substantial yet currently the actual risk is poorly quantified. We aim to use genomic profiling to construct and validate a novel risk score which can accurately determine which family members of coeliac disease cases are most at risk themselves.
Integration Of Genetic Testing For Risk Associated Genomic Variants And Rare Predisposition Genes Into The Management Of High Risk Hereditary Breast Cancer Families
Funder
National Health and Medical Research Council
Funding Amount
$645,457.00
Summary
Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.
Using Next-generation Sequencing Technology To Identify Genetic Determinants Of Epilepsy And Sporadic Epilepsy Prognosis
Funder
National Health and Medical Research Council
Funding Amount
$322,282.00
Summary
Recent advances in high-throughput, next-generation, DNA sequencing allows biologists to simultaneously analyse the differences in thousands of different genes across affected and unaffected individuals. However, it produces an overwhelming amount of data and making sense of this deluge of data is a current challenge. Overcoming this challenge will enable scientific discoveries of pathogenic variants of disease, potentially providing an opportunity for targeted drug development.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE150100031
Funder
Australian Research Council
Funding Amount
$630,000.00
Summary
PacBio long read sequencer for the Ramaciotti Genomics Consortium of NSW. PacBio long read sequencer for the Ramaciotti Genomics Consortium of New South Wales: This will be one of the first PacBio sequencers for a service facility in Australia. Unlike other next-generation sequencers that have read lengths of 100 to 700 bases, the PacBio long read sequencer generates an average read length of 8,000 bases and a maximum of 20,000 bases. It will be used for research in genomics, metagenomics and tr ....PacBio long read sequencer for the Ramaciotti Genomics Consortium of NSW. PacBio long read sequencer for the Ramaciotti Genomics Consortium of New South Wales: This will be one of the first PacBio sequencers for a service facility in Australia. Unlike other next-generation sequencers that have read lengths of 100 to 700 bases, the PacBio long read sequencer generates an average read length of 8,000 bases and a maximum of 20,000 bases. It will be used for research in genomics, metagenomics and transcriptomics.Read moreRead less
Cellular determinants of retrotransposition. This project aims to understand the processes that control retrotransposition in a genome. Transposable elements make up more than 50% of human genomes. The accumulation of retrotransposons through millions of years of evolution has shaped the genomes of all eukaryotic organisms, including humans. Researchers have elucidated mechanisms the host uses to defend the genome against insertional mutagenesis by retrotransposons, but the cellular machinery an ....Cellular determinants of retrotransposition. This project aims to understand the processes that control retrotransposition in a genome. Transposable elements make up more than 50% of human genomes. The accumulation of retrotransposons through millions of years of evolution has shaped the genomes of all eukaryotic organisms, including humans. Researchers have elucidated mechanisms the host uses to defend the genome against insertional mutagenesis by retrotransposons, but the cellular machinery and genomic environments needed for retrotransposition are undefined. This project aims to use models to uncover the mechanisms that control retrotransposition. This is expected to reveal more about human origins.Read moreRead less
Discovery And Characterisation Of Long Noncoding RNAs In Human Neurological Disorders
Funder
National Health and Medical Research Council
Funding Amount
$349,647.00
Summary
Numerous regions in our DNA influence how likely we are to develop various diseases, including brain disorders such as Autism and Schizophrenia. However, in many of these regions no genes have been found and they appear “empty”, making it difficult to uncover what’s triggering the disease. This project will use a powerful new technology to discover new genes hidden within these supposedly “empty” regions that are important in brain disorders and investigate how they contribute to disease.
Understanding disease resistance gene evolution across the Brassicaceae. Pan genomes represent the diversity of a species, including structural and sequence variation, which cannot be provided by a reference genome alone. In this project we will characterise resistance gene diversity across the Brassicaceae pan genomes. Through comparison with resistance gene diversity in cultivated Brassica species we will understand selection underlying resistance gene evolution in wild species and subsequent ....Understanding disease resistance gene evolution across the Brassicaceae. Pan genomes represent the diversity of a species, including structural and sequence variation, which cannot be provided by a reference genome alone. In this project we will characterise resistance gene diversity across the Brassicaceae pan genomes. Through comparison with resistance gene diversity in cultivated Brassica species we will understand selection underlying resistance gene evolution in wild species and subsequent domestication and breeding. Knowledge on how variation affects disease susceptibility, especially to the devastating fungal pathogen blackleg, and contributes to phenotypic variation, will lead to improved plant protection strategies and increased crop resilience.Read moreRead less
The More the Merrier? Investigating copy number variation in Brassicas. This project intends to develop an understanding of how gene copy number variation affects disease susceptibility to help in the design of novel plant protection strategies. Gene copy number variants (CNVs) are segments of DNA that have been duplicated or lost in the genome of one individual or line with respect to another. CNVs have been shown to contribute significantly to phenotypic differences in humans, including diseas ....The More the Merrier? Investigating copy number variation in Brassicas. This project intends to develop an understanding of how gene copy number variation affects disease susceptibility to help in the design of novel plant protection strategies. Gene copy number variants (CNVs) are segments of DNA that have been duplicated or lost in the genome of one individual or line with respect to another. CNVs have been shown to contribute significantly to phenotypic differences in humans, including disease susceptibility, and the same seems to apply in plants. This project aims to apply the genome sequences for Brassica species to detect CNVs from re-sequencing data. Knowing how this variation affects an individual or line’s disease susceptibility, especially to the devastating fungal pathogen blackleg, could improve plant protection strategies and crop production.Read moreRead less
Identification of Biological pathways regulated by circular RNAs. Circular RNAs (circRNAs) are a, recently discovered molecule. circRNAs are highly abundant and expressed in a tissue and disease specific manner. Yet, currently the understanding of how circRNAs regulate biological processes is very poor. This project aims to use pooled shRNA libraries to screen a large panel of cell lines and systematically identify cellular activities that are regulated by circRNAs. The expected outcome of this ....Identification of Biological pathways regulated by circular RNAs. Circular RNAs (circRNAs) are a, recently discovered molecule. circRNAs are highly abundant and expressed in a tissue and disease specific manner. Yet, currently the understanding of how circRNAs regulate biological processes is very poor. This project aims to use pooled shRNA libraries to screen a large panel of cell lines and systematically identify cellular activities that are regulated by circRNAs. The expected outcome of this study will be a catalogue of functionally active circRNAs. Over the past decades, the wealth of knowledge on the function of linear mRNAs has had a significant impact on medicine and agriculture. Similarly understanding how circRNAs regulate cellular activities may have an analogous impact on humans.Read moreRead less