Synthetic DNA Standards For Clinical Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$870,005.00
Summary
Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.
Diagnosis Of Inherited Genetic Disorders Using DNA Reference Standards
Funder
National Health and Medical Research Council
Funding Amount
$690,820.00
Summary
Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.
An Indigenous Australian Reference Genome: Indigenous Inclusion In The Benefits Of Genomic Medicine
Funder
National Health and Medical Research Council
Funding Amount
$1,428,508.00
Summary
This project will establish an Indigenous Australian reference genome (the NCIGrg) within the National Centre for Indigenous Genomics (NCIG) using advanced genome sequencing technologies and data analytics and evaluate its research and clinical utility. The NCIGrg will be cornerstone of future genomic research and its clinical application in Indigenous communities. It will underpin NCIG’s commitment to ensuring that Indigenous Australians are included in the benefits of genomic medicine.
Uncovering The Impact Of Tandem Repeat Variation On Both Common And Syndromic Forms Of Paediatric Obesity
Funder
National Health and Medical Research Council
Funding Amount
$619,622.00
Summary
We are currently in the middle of a world-wide obesity epidemic. While much of the increase in obesity prevalence is due to diet and a sedentary lifestyle, a significant proportion of risk of childhood obesity is thought to have a genetic basis. A proportion of our DNA consists of repeated DNA units, like a genetic stutter, and the number of repeats is variable in the population. We will measure the repeat number at repeats across the genome to search for changes associated with obesity.
Silencing the X chromosome: why and how. The project aims to understand why we have X chromosome inactivation, and examine the fundamental molecular mechanisms of how it is achieved. The project will explore RNA-mediated epigenetic modification of whole chromosomes with innovative molecular methods in placental mammals, and also iconic Australian mammals, to transform our understanding of X chromosome inactivation. Further understanding whole chromosome silencing, will inform future research int ....Silencing the X chromosome: why and how. The project aims to understand why we have X chromosome inactivation, and examine the fundamental molecular mechanisms of how it is achieved. The project will explore RNA-mediated epigenetic modification of whole chromosomes with innovative molecular methods in placental mammals, and also iconic Australian mammals, to transform our understanding of X chromosome inactivation. Further understanding whole chromosome silencing, will inform future research into potential therapies for chromosomal trisomies.Read moreRead less
Engineering improved and multifunctional gene editing systems. Advances in genome editing have enabled the targeted modulation of gene expression in cells and provided new tools for biotechnology. This project will combine computational design and genetic selection to deliver the next generation of precision gene editing tools. These new technologies can be used for modification of genes in any cellular compartment and will be useful for understanding and improving energy metabolism. Increased c ....Engineering improved and multifunctional gene editing systems. Advances in genome editing have enabled the targeted modulation of gene expression in cells and provided new tools for biotechnology. This project will combine computational design and genetic selection to deliver the next generation of precision gene editing tools. These new technologies can be used for modification of genes in any cellular compartment and will be useful for understanding and improving energy metabolism. Increased cellular energy production can be harnessed to make valuable biological products, with unprecedented efficiency.Read moreRead less
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
Discovery Early Career Researcher Award - Grant ID: DE130101450
Funder
Australian Research Council
Funding Amount
$374,300.00
Summary
The molecular basis of division of labour in the beehive. This study will dissect the genes and gene networks underpinning behaviour using cutting edge molecular and computational techniques. As a model, this project will study the division of labour in a social insect, the honeybee.
The role of Roquin in microRNA function and decay. The aim of this study is to understand how microRNAs (newly discovered genetic components that control cell growth and survival) function and are regulated. The expected discoveries will help understand how common cancers including breast cancer and autoimmune diseases emerge, and will help develop cutting edge genetic technologies.
The characterization of tiny Ribonucleic acids in animal epigenetics. Epigenetics, the inheritance of traits not encoded in deoxyribonucleic acid (DNA), is not well understood in animals. This project will investigate two classes of Ribonucleic acid (RNA) that may form part of an animal-specific epigenetic regulatory system. This study could revolutionize our understanding of animal genetics.