Large-Scale Multi-Omic Analysis And Risk Prediction Of Complex Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$321,414.00
Summary
A major aim of medicine is to prevent disease, which is often more successful and cost-effective than treating an already existing condition. Common diseases, such as autoimmune and cardiovascular diseases, have a predisposing genetic basis. We will conduct genetic analysis of large datasets of coeliac disease and cardiovascular disease to better identify individuals at increased risk and to better understand the underlying biological processes through which genetics act to affect one's risk.
Mobile DNA activity in the mammalian primordial germline. Early in pregnancy, a handful of cells in the embryo become primordial germ cells (PGCs). These PGCs will eventually give rise to sperm or egg cells, representing a critical inter-generational genetic link. Mobile DNA sequences target PGCs to create new heritable genetic changes. This proposal aims to analyse the activity, regulation, and consequences of mobile DNA activity in PGCs. This project expects to generate significant knowledge a ....Mobile DNA activity in the mammalian primordial germline. Early in pregnancy, a handful of cells in the embryo become primordial germ cells (PGCs). These PGCs will eventually give rise to sperm or egg cells, representing a critical inter-generational genetic link. Mobile DNA sequences target PGCs to create new heritable genetic changes. This proposal aims to analyse the activity, regulation, and consequences of mobile DNA activity in PGCs. This project expects to generate significant knowledge about the origins of mammalian genetic diversity. Expected outcomes include enhanced national and international collaborations across disciplines and new experimental systems. The expected benefit is an enhanced understanding of the mutational processes underlying genetic diversity and disease in mammals.Read moreRead less
Whole Genome Pharmacogenomics Study Of Susceptibility Of Birth Defects In Children Born To Mothers Taking Anti-Epileptic Drugs
Funder
National Health and Medical Research Council
Funding Amount
$663,160.00
Summary
This project will investigate for genes that determine why certain women have an increased risk of having a baby with a birth defect if they become pregnant while being treated with a medication for epilepsy. Subjects will be recruited from the Australian Pregnancy Register, the findings validated using subjects from the UK Epilepsy and Pregnancy Register. The study will comprehensively examine for both common and rare changes in genes across the entire human genome.
Combining Human Genetics With Single-cell Genomics To Unravel The Differentiation Dynamics Of Human Induced Pluripotent Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$354,156.00
Summary
We now have the ability to reprogram mature cells from an adult human into pluripotent stem cells, raising the possibility of using a patient’s own cells for treating currently incurable diseases. My project will provide a better understanding of the role genetic variation between people plays in the variability of the expression and regulation of genes between individual cells during the cell differentiation process. I will also develop statistical and software tools to conduct these analyses.
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.
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.
Gene Discovery In Motor Neuron Disease Through Systems Genomics
Funder
National Health and Medical Research Council
Funding Amount
$938,932.00
Summary
Motor neuron disease (MND) is an adult-onset, rapidly progressive neurodegenerative disorder that leads to paralysis and death, typically within 2 to 5 years of first symptoms. More than 85% of cases do not harbour known MND mutations. This proposal exploits genome-wide genetic and epigenetic profiling methods and leverages across multiple existing genomic resources to discover genes and functional pathways that contribute to MND pathogenesis and progression.
The birth and death of mammalian sex chromosomes. This project aims to unravel the molecular mechanisms that underlie the transition from autosome to sex chromosome and progressive sex chromosome differentiation in mammals. Monotremes are the only mammalian species with a sex chromosome system that consists of ten sex chromosomes in platypus and nine in echidna. This project will analyse the genetic and epigenetic composition and organisation of the monotreme autosomes that evolved into sex chro ....The birth and death of mammalian sex chromosomes. This project aims to unravel the molecular mechanisms that underlie the transition from autosome to sex chromosome and progressive sex chromosome differentiation in mammals. Monotremes are the only mammalian species with a sex chromosome system that consists of ten sex chromosomes in platypus and nine in echidna. This project will analyse the genetic and epigenetic composition and organisation of the monotreme autosomes that evolved into sex chromosomes in other mammals and compare individual platypus and echidna sex chromosomes to discover how sex chromosomes come to be, differentiate and ultimately are replaced by new sex chromosomes.Read moreRead less
Generating a targeted mutation resource in zebrafish. How do genes function to build organisms and how are they regulated to produce organs and tissues? Using a new technique to target specific genes in the genome of zebrafish, this project will determine how genes control formation of different tissues. The new gene "knockout" technology will fundamentally change our understanding of how genes work during development.
Discovering sex determining genes in a reptile with genetic and environmental sex determination. Reptile sex determination is particularly fascinating because it is triggered either by genes on sex chromosomes or by the nest temperature. This project will identify and characterise candidate sex determining genes in a model reptile to understand how genes control sexual differentiation and how they interact with temperature.