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.
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.
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.
Integrating Population Genetics, In Silico And Functional Data To Enable Precision Medicine In The Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Epilepsy has proven to be a very genetically tractable neurological disorder. However, while we now routinely identify causal mutations in out patient populations, the process of understanding which are contributing versus which are benign background variation becomes critical as we move towards a period where precision medicine is becoming a reality for some patients. This work will focus on bringing together multiple levels of data to explore integrated models of predicting epilepsy variants.
The genetics of four ancient 'Kings' of Sahul and Sunda. This project aims to recover all the genetic information from four ancient humans. Two of these iconic specimens come from Australia and two from Malaysia. We will sequence the entire DNA (genomes) and proteins (proteome) of Mungo Man (Willandra), the Yidinji King (Cairns), the Deep Skull (Borneo) and the Bewah specimen (Malaysian Peninsula). This will provide a better understanding of the settlement of Australia and new knowledge about th ....The genetics of four ancient 'Kings' of Sahul and Sunda. This project aims to recover all the genetic information from four ancient humans. Two of these iconic specimens come from Australia and two from Malaysia. We will sequence the entire DNA (genomes) and proteins (proteome) of Mungo Man (Willandra), the Yidinji King (Cairns), the Deep Skull (Borneo) and the Bewah specimen (Malaysian Peninsula). This will provide a better understanding of the settlement of Australia and new knowledge about the ancient people of Australasia and their relationship to other human populations worldwide. The research will use cutting-edge methods of DNA and protein sequencing of ancient human material and will provide critical reference genomes / proteomes that will anchor future research.Read moreRead less
The evolution of recombination cold spots during speciation. In the absence of geographic barriers, sexual reproduction between diverging populations is the greatest obstacle to the formation of new species. As diverging populations accumulate differences by the action of natural selection, genetic recombination resulting from sexual reproduction eliminates them. As a consequence, cases of speciation with gene flow such as sympatric or parapatric speciation have been considered improbable. This ....The evolution of recombination cold spots during speciation. In the absence of geographic barriers, sexual reproduction between diverging populations is the greatest obstacle to the formation of new species. As diverging populations accumulate differences by the action of natural selection, genetic recombination resulting from sexual reproduction eliminates them. As a consequence, cases of speciation with gene flow such as sympatric or parapatric speciation have been considered improbable. This project will investigate novel hypotheses for the formation of new species in the face of gene flow, and will evaluate empirically their predictions using the groundsel Senecio lautus. Results derived from this investigation will provide novel insights into the old riddle of speciation with gene flow.Read moreRead less
The genetics of replicated evolution. Using an Australian daisy, the project will study how natural selection creates repeated patterns of evolution at the gene and morphology levels. The project will provide students with training at the interface of genomics, ecology, and evolution.
The origins of Australia's non-Pama-Nyungan speaking people. This project aims to test the likelihood of multiple migrations into Australia before European arrival and determine if the phylogenetic relationships among non-Pama-Nyungan languages is mirrored by their speakers’ genomic phylogenetic relationships. The non-Pama-Nyungan First People of Australia speak an extraordinary number and diversity of Aboriginal languages, but the origins of these languages and the genomic diversity of the peop ....The origins of Australia's non-Pama-Nyungan speaking people. This project aims to test the likelihood of multiple migrations into Australia before European arrival and determine if the phylogenetic relationships among non-Pama-Nyungan languages is mirrored by their speakers’ genomic phylogenetic relationships. The non-Pama-Nyungan First People of Australia speak an extraordinary number and diversity of Aboriginal languages, but the origins of these languages and the genomic diversity of the people who speak them are only now starting to be understood. There is a remarkable concordance between the Pama-Nyungan languages and the genomic diversity of their speakers. This research could show whether genomes change languages or vice versa, or whether they evolve together over time.Read moreRead less
Evolutionary Genomics Approaches For Studying Acquisition Of Drug Resistance In Tumours
Funder
National Health and Medical Research Council
Funding Amount
$313,390.00
Summary
Chemotherapy often fails because some of the cells in tumour evolve resistance to the drugs the patient is given, causing relapse. We study how a tumour’s unstable genome and high rate of mutation drives its evolution by observing tumour cells in the laboratory as they evolve resistance to drugs and the genetic differences between resistant and sensitive cells. This work will help develop therapeutic strategies to prevent tumours from evolving resistance to chemotherapy.