As a molecular geneticist, I am interested in how and why genetic mutations occur, how these changes cause disease or disease predisposition, and ways of better treating and monitoring genetic disease. The ‘model diseases’ I am most interested in are blood cell diseases such as autoimmunity (e.g. arthritis) and leukaemias.
Investigating The Molecular Signature Of ASD Through Integrative Genomics
Funder
National Health and Medical Research Council
Funding Amount
$621,128.00
Summary
Autism is the most severe end of a spectrum of neurodevelopmental conditions, autism spectrum disorders (ASD). We have identified a signature of genes dysregulated in the brain of autistic individuals. The proposed project will investigate how the molecular signature of autism is regulated in the brain, and whether genetic variants in regulatory DNA contribute to the genetic architecture of ASD.
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
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
Mapping recombination blocks in Brassica. DNA technology provides new ways to study genomes. Understanding how the genome behaves during plant breeding will help design strategies for the breeding and selection of improved crop plants.
Regulatory RNAs Underlying Genetic Associations With Ankylosing Spondylitis
Funder
National Health and Medical Research Council
Funding Amount
$431,201.00
Summary
Ankylosing spondylitis is a chronic inflammatory disease affecting the spine and causing back pain. The diagnosis of the disease is delayed by up to 10 years due to lack of accurate tests. We aim to identify molecular signatures of the disease that might be used to distinguish inflammatory processes typical of the disease and other causes of back pain. This would allow earlier and more accurate diagnosis of the disease and result earlier patient treatment and better health outcomes.
Evolution and function of fragmented animal mitochondrial genomes. This project will reveal why animal mitochondrial genomes are in pieces, and how fragmented mitochondrial genomes evolve and function. This project will discover whether or not fragmented mitochondrial genomes have functional advantages. Knowledge generated from this project will lead to new approaches to mitochondrial genetic diseases in humans.