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
Evolution and function of mammalian sex chromosomes. Research on iconic Australian mammals has profoundly reshaped our understanding of reproductive biology and sex chromosome evolution. In this project we combine unique expertise, international collaboration and novel genetic information about Australia's unique egg-laying mammals (echidna and platypus) to investigate major aspects of reproduction. This work will address fundamental aspects of sex chromosome biology and advance our understandin ....Evolution and function of mammalian sex chromosomes. Research on iconic Australian mammals has profoundly reshaped our understanding of reproductive biology and sex chromosome evolution. In this project we combine unique expertise, international collaboration and novel genetic information about Australia's unique egg-laying mammals (echidna and platypus) to investigate major aspects of reproduction. This work will address fundamental aspects of sex chromosome biology and advance our understanding of mammalian reproduction. The knowledge gained will have application in captive breeding and conservation of these extraordinary Australian mammals. The project also provides opportunity to train research students in cutting edge molecular biology and informatics.Read moreRead less
Identifying the diversity and evolution of loci associated with adaptation to aridity/heat and salinity in ancient cereal crops. This project will use ancient grains of wheat, barley and rye to find 'lost' genetic diversity at key genes associated with resistance to aridity, salt and disease. This project will make the proteins of key genes, and study their interaction with the environment over time by measuring ions in the grains to reveal the ancient environmental conditions.
Australian Heritage: constructing the first Aboriginal reference genome. This project aims to use DNA sequencing technologies to generate the first complete and accurate Aboriginal genomes, along with maps of genomic variation around Australia. It will combine a range of advanced analytical methods to integrate past and present indigenous genetic diversity from human populations around the world into a new pan-human reference genome. This project will lead to a step change in our understanding o ....Australian Heritage: constructing the first Aboriginal reference genome. This project aims to use DNA sequencing technologies to generate the first complete and accurate Aboriginal genomes, along with maps of genomic variation around Australia. It will combine a range of advanced analytical methods to integrate past and present indigenous genetic diversity from human populations around the world into a new pan-human reference genome. This project will lead to a step change in our understanding of global human genomic variants and provide a range of new targets relevant to medical biology, while significantly improving our knowledge of human genetic history and its consequences in the modern day.Read moreRead less
The genomic landscape of speciation in hominins and other taxa. This project will develop a new analytical framework to build detailed genomic maps of speciation genes across different taxa, to determine whether observed speciation is the result of background selection and demography alone, or whether there are actual barriers to gene flow and introgressed DNA. The model will provide novel insights into the mechanistic basis of speciation, specifically whether a common set of genes or pathways a ....The genomic landscape of speciation in hominins and other taxa. This project will develop a new analytical framework to build detailed genomic maps of speciation genes across different taxa, to determine whether observed speciation is the result of background selection and demography alone, or whether there are actual barriers to gene flow and introgressed DNA. The model will provide novel insights into the mechanistic basis of speciation, specifically whether a common set of genes or pathways are central to the speciation process. The framework will be developed using the large genomic datasets available across a range of plant and animal species. Applying the model to a modern human population dataset will elucidate the role introgressed DNA from Denisovan and Neanderthals has played in shaping human evolutionary history and may provide novel insights into the genetic basis of disease.Read moreRead less
Estimating genotype-environment interaction using genomic information. This project aims to develop statistical methods that can explore genotype–environment interaction at the genomic level using genome-wide single nucleotide polymorphisms or sequence data. It plans to estimate how the effects of genetic variants change with changing environmental conditions and how overall genetic variance changes due to changing effects in specific gene regions. It plans to deliver statistical models and meth ....Estimating genotype-environment interaction using genomic information. This project aims to develop statistical methods that can explore genotype–environment interaction at the genomic level using genome-wide single nucleotide polymorphisms or sequence data. It plans to estimate how the effects of genetic variants change with changing environmental conditions and how overall genetic variance changes due to changing effects in specific gene regions. It plans to deliver statistical models and methods and an efficient algorithm implemented in software, which would broadly benefit the field of complex trait genetics. Methods to estimate genotype–environment interaction effects at the genomic level would help elucidate complex biological systems, including human genetic response to changing environmental factors and the potential adaptation of animals to changing environmental conditions.Read moreRead less
Whole-genome multivariate reaction norm model for complex traits. This project aims to develop a multivariate whole-genome genotype-covariate correlation and interaction model that can be applied to a wide range of existing genome-wide association study (GWAS) datasets. Genotype-covariate correlation and interaction (GCCI) are fundamental in biology but there is no standard approach to disentangle interaction from correlation in the whole-genome analyses. This project will address the key featur ....Whole-genome multivariate reaction norm model for complex traits. This project aims to develop a multivariate whole-genome genotype-covariate correlation and interaction model that can be applied to a wide range of existing genome-wide association study (GWAS) datasets. Genotype-covariate correlation and interaction (GCCI) are fundamental in biology but there is no standard approach to disentangle interaction from correlation in the whole-genome analyses. This project will address the key feature in biology, which relates to dissecting the complex mechanism of association and interaction. The proposed statistical model implemented in a context of a novel design based on multiple GWAS data sets is a paradigm shifting-tool with applications to multiple industries.Read moreRead less
Complex trait analyses based on genome-wide approaches. This project aims to develop whole genome approaches that can improve the estimation and prediction power by using information from the dynamic genetic architecture of complex traits (i.e. the changes of genetic characteristics and effects when varying effective population size and genetic backgrounds). The project intends to deliver advanced statistical models, efficient algorithms and design by combining data from close relatives, populat ....Complex trait analyses based on genome-wide approaches. This project aims to develop whole genome approaches that can improve the estimation and prediction power by using information from the dynamic genetic architecture of complex traits (i.e. the changes of genetic characteristics and effects when varying effective population size and genetic backgrounds). The project intends to deliver advanced statistical models, efficient algorithms and design by combining data from close relatives, population samples or from different populations (e.g. multi-ethnicities or multi-breeds). The expected outcome is to better understand the dynamic architecture of complex traits and develop methods with improved power, precision and accuracy in genomic analyses.Read moreRead less
Transforming The Diagnosis And Management Of Severe Neurocognitive Disorders Through Genomics
Funder
National Health and Medical Research Council
Funding Amount
$2,499,330.00
Summary
Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.
Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance
Funder
National Health and Medical Research Council
Funding Amount
$25,000,000.00
Summary
The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This technology has moved so rapidly, however, that clinical access has been limited. In this application, a national alliance of clinicians, researchers, health economists and policymakers will evaluate the case for clinical genomics across inherited disease and cancer, determine how best to deliver this to the patient and train a capable workforce.