A Cohorts-based Approach To Define Monogenic Causes Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$824,841.00
Summary
New genomic technologies are transitioning from research to being used for routine genetic diagnosis. Rare diseases have been proposed to be one of the key beneficiaries of this translation. Collectively, rare diseases affect 6-8% of the population or ~20,000 births each year in Australia, mostly with serious health implications. Our study addresses the technical, bioinformatic and corroborative challenges needed for accurate diagnosis of a large group of rare diseases.
Cancer Genomics; Psychosocial, Behavioural And Ethical Issues And Outcomes, Two Inter-related Longitudinal Studies
Funder
National Health and Medical Research Council
Funding Amount
$506,654.00
Summary
Over 1/3 of patients with cancer will die of their disease. Genomics offers hope of more tailored risk management and treatment, but will only realize its promise if patients understand, cope with, inform relatives about, and make informed decisions based on, genomic results. This study will be the first internationally to explore the knowledge, attitudes, preferences, experiences and outcomes of cancer patients who undergo genomic testing and their relatives, over time.
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.
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.
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.
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.
The genetic architecture of colour polymorphism and speciation. Speciation, the process by which populations diverge and become distinct, is the engine that drives biodiversity and Darwin's 'mystery of mysteries'. Speciation is accelerated in species with multiple, discrete, coexisting colour forms; yet the genetic mechanisms underpinning this pattern are not known. This project aims to identify the genes underlying different colour forms and how they are distributed across the genome. The proj ....The genetic architecture of colour polymorphism and speciation. Speciation, the process by which populations diverge and become distinct, is the engine that drives biodiversity and Darwin's 'mystery of mysteries'. Speciation is accelerated in species with multiple, discrete, coexisting colour forms; yet the genetic mechanisms underpinning this pattern are not known. This project aims to identify the genes underlying different colour forms and how they are distributed across the genome. The project plans to test the prediction that these same areas of the genome show marked divergence between lineages that are in the process of becoming distinct species. Doing so may contribute significantly to our understanding of speciation, underlying genetic mechanisms, and genes generating colour variation in vertebrates.Read moreRead less
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.
Was an ancient bird-like sex chromosome system ancestral to reptiles and mammals? Recent discoveries reveal amazing similarity in the sex chromosomes of distantly related animals. This project will use advanced DNA technology to explore diverse sex chromosomes in reptiles to discover whether this signifies ancient and unsuspected common ancestry, or the convergent redeployment of genes and chromosomes predisposed to determine sex.