Discovery And Translation Of Disease Causing Mutations With Genomic And Transcriptomic Data
Funder
National Health and Medical Research Council
Funding Amount
$622,655.00
Summary
This proposal will develop and apply methods for the analysis of genetic data generated from family and cohort studies of collaborators to identify genetic risk loci for both neurogenetic disorders and infectious diseases, particularly malaria. The project will combine large-scale datasets of different types and across different species. This will require the development and application of multivariate statistical analysis methods suited to the data.
QTL Linkage Analysis For Complex Human Traits In Twin Families
Funder
National Health and Medical Research Council
Funding Amount
$1,000,000.00
Summary
This project will focus on finding genes for common human diseases. Now that the human genome has been sequenced, the race is on to find out what the estimated 38,000 human genes do and which ones are associated with which diseases. Scattered throughout the genome are small variations in DNA sequence, some of which increase the odds of disease while others are protective.
Constructing Control Samples For The Australian And Other Populations: Improving Power And False Positive Rates In The Next Generation Of Genetic Association Studies With A Focus On Controlling For Fine-scale Population Structure In DNA Sequence Data
Funder
National Health and Medical Research Council
Funding Amount
$283,447.00
Summary
Individuals who live near each other tend to be more similar genetically than individuals who live in different parts of the world. One reason is that they share more of their genetic ancestry. There can be very subtle differences in patterns of genetic variation even within countries. Accounting for these subtle differences can be important for studies of the genetic basis of diseases. We will develop novel statistical methods to control for these genetic differences in disease studies.
Identifying genes causing thermal evolution of ectotherm body size. Cold-blooded animals increase in body size as they are found in populations at greater distances from the equator. These patterns are due to populations adapting to temperature. The aim of this project is to identify the genes involved in this adaptation process. We will do this by taking advantage of a well-studied body size cline in the vinegar fly on the east coast of Australia, and by building on an international collaborati ....Identifying genes causing thermal evolution of ectotherm body size. Cold-blooded animals increase in body size as they are found in populations at greater distances from the equator. These patterns are due to populations adapting to temperature. The aim of this project is to identify the genes involved in this adaptation process. We will do this by taking advantage of a well-studied body size cline in the vinegar fly on the east coast of Australia, and by building on an international collaboration between a leading UK and two Australian research groups. In doing so we will provide an explanation at the molecular level for one of the great unresolved phenomena in biology: why do cold-blooded animals get bigger in the cold? The research also leads to the potential to manipulate body size in animals.Read moreRead less
A Genomic Dissection of Natural Adaptation in Mate Recognition. Adaptation is a fundamental area of evolutionary biology but we know surprisingly little about its underlying genetic basis. As a process, adaptation poses several challenges for Australian society including bacterial evolution of resistance to antibiotics, HIV resistance to antiviral medications and the evolution of pesticide resistance in agricultural pests. This study will use a model system and genomic tools to test theoretical ....A Genomic Dissection of Natural Adaptation in Mate Recognition. Adaptation is a fundamental area of evolutionary biology but we know surprisingly little about its underlying genetic basis. As a process, adaptation poses several challenges for Australian society including bacterial evolution of resistance to antibiotics, HIV resistance to antiviral medications and the evolution of pesticide resistance in agricultural pests. This study will use a model system and genomic tools to test theoretical models of the genetic basis of adaptation. This integrative approach will enhance Australia's research profile in genomics and evolutionary biology. The project will provide emerging scientists with skills in areas including genomics, molecular biology, evolutionary biology and agricultural genetics.Read moreRead less
Maximising knowledge from dense SNP (single nucleotide polymorphisms) data using multi-locus analysis. The genomics revolution has made it possible to measure thousands of DNA variants in individuals. This information can be used in many ways, including to find genes that cause variation between individuals in a population and to estimate the size of the population in the past. Our study will lead an analysis method that will extract more information out of such data. This will improve the effi ....Maximising knowledge from dense SNP (single nucleotide polymorphisms) data using multi-locus analysis. The genomics revolution has made it possible to measure thousands of DNA variants in individuals. This information can be used in many ways, including to find genes that cause variation between individuals in a population and to estimate the size of the population in the past. Our study will lead an analysis method that will extract more information out of such data. This will improve the efficiency of gene mapping methods, including applications in humans for traits related to productive ageing and a healthy start to life, will allow the estimation of genetic relatedness and genetic variation in natural populations, and will lead to more efficient selection programs in agricultural populations.Read moreRead less
Population dynamics and genetic variation of plants with contrasting fire responses. We combine the traditional concerns of population viability analyses with the modern techniques of DNA fingerprinting for precise genotyping of individual plants and their seeds. We expect major breakthroughs in our understanding of how fire-killed species have survived thousands of years of frequent burning by Aborigines (by identifying seeds dispersed long distances from burnt parents); how paternity of offspr ....Population dynamics and genetic variation of plants with contrasting fire responses. We combine the traditional concerns of population viability analyses with the modern techniques of DNA fingerprinting for precise genotyping of individual plants and their seeds. We expect major breakthroughs in our understanding of how fire-killed species have survived thousands of years of frequent burning by Aborigines (by identifying seeds dispersed long distances from burnt parents); how paternity of offspring changes over the lifespan of plants which retain their seeds for many years; at what age within-plant genetic variation is at a maximum as a guide to optimal fire management; and the extent that deleterious somatic mutations explain low seed set among long-lived species.Read moreRead less
Sex, parthenogenesis and adaptation: a novel laboratory 'natural selection' experiment testing the adaptive significance of sexual and asexual reproduction. One of the greatest challenges for evolutionary biology is explaining the widespread occurrence of sexual reproduction. Many theoretical models show some inherent benefits of sex, however these models make assumptions that little or no empirical data exists for. Using a novel phenomenon found in the parasitoid wasp genus Trichogramma, I will ....Sex, parthenogenesis and adaptation: a novel laboratory 'natural selection' experiment testing the adaptive significance of sexual and asexual reproduction. One of the greatest challenges for evolutionary biology is explaining the widespread occurrence of sexual reproduction. Many theoretical models show some inherent benefits of sex, however these models make assumptions that little or no empirical data exists for. Using a novel phenomenon found in the parasitoid wasp genus Trichogramma, I will investigate the adaptive significance of sexual and asexual reproduction in a laboratory natural selection experiment and therefore directly test the theory for the evolution and maintenance of sex. This will be the first such test in a higher organism.Read moreRead less
Identifying Novel Gene Mutations For Molecular Diagnosis Of Familial Hemiplegic Migraine
Funder
National Health and Medical Research Council
Funding Amount
$623,460.00
Summary
This proposal aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples. We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques. Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.