Applying Next Generation Sequencing To Family Studies
Funder
National Health and Medical Research Council
Funding Amount
$182,622.00
Summary
Recent advances in technology can determine the DNA composition of a person for much longer stretches of DNA, at a much cheaper cost. I use statistical analysis to identify regions of the human genome that harbour mutations that cause diseases such as epilepsy in families. These regions contain 5-15 million base pairs. We need to find the ONE base pair that causes disease. This application deals with the development of new tools to exploit new technology for the identification of mutations.
Association Screen Of High Priority Positional Candidate Genes For Migraine
Funder
National Health and Medical Research Council
Funding Amount
$187,521.00
Summary
Typical migraine, is a frequent, debilitating and painful disorder that normally affects people during their most productive years (25% of females and 7.5% of males). The World Health Organization recently identified migraine among the world's top 20 leading causes of disability, with an impact that extends far beyond the suffering individual, to the family and community. Although migraine is highly prevalent in our society, its aetiology remains relatively obscure and there are no laboratory ba ....Typical migraine, is a frequent, debilitating and painful disorder that normally affects people during their most productive years (25% of females and 7.5% of males). The World Health Organization recently identified migraine among the world's top 20 leading causes of disability, with an impact that extends far beyond the suffering individual, to the family and community. Although migraine is highly prevalent in our society, its aetiology remains relatively obscure and there are no laboratory based diagnostic tests that identify those who suffer from the disorder. Twin studies indicate that migraine has a significant genetic component, with heritability estimates of 33-65%. Therefore, in an effort to identify the molecular mechanisms underlying the disorder, we have been looking for genomic regions co-inherited (linked) with migraine. The resulting genome-wide linkage scan involving 756 Australian families found significant evidence for the presence of a novel migraine gene on chromosome 5q21 and highly suggestive evidence for a gene on chromosome 10q22. Importantly, we recently replicated linkage to the 5q21 and 10q22 regions in an independent collection of Australian migraine families. Consequently, these regions hold great promise for identifying migraine susceptibility genes in our sample. Using a bioinformatics computer-assisted search of public databases we have ranked the potential candidature of the genes within the 5q21 and 10q22 regions This project will screen the top 21 candidate genes in 768 cases and 768 controls highly selected for the presence and absence of familial migraine, respectively. Our proposed association screen of high priority genes in two strongly implicated regions has high power to identify genes underlying common migraine susceptibility. Such genes will provide clues to the further elucidation of the complex molecular pathways of migraine and , finally, will help in the development of diagnostic tests and rational treatment strategies.Read moreRead less
We recently established the Centre for Neurogenetics and Statistical Genomics, a research centre within the Queensland Brain Institute. It was established to bring together a team of researchers with expertise in neurogenetics, neuropsychiatric genetics, statistical genomics and computational biology. During my Fellowship I will conduct research at this Centre to elucidate the genetic basis of neurogenetic diseases and psychiatric disorders, using genomic tools and data analysis.
Mapping Genes For Typical Migraine Using Twin Families.
Funder
National Health and Medical Research Council
Funding Amount
$439,124.00
Summary
Current evidence suggests multiple genes may underlie susceptibility to the more common forms of migraine. The project will look to see if the these genes provide clues to the further elucidation of the complex molecular pathways of migraine and will help in the development of diagnostic tests and evidence-based treatment strategies.
I am a human geneticist studying the genetics (molecular genetics and heredity) and variation of common complex human traits and disease, in particular, migraine and endometriosis.
Genome-wide Association Study Of Migraine In Women With Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$320,036.00
Summary
Typical migraine, is a frequent, debilitating and painful disorder that affects people during their most productive years (25% of females and 7.5% of males). Women suffering endometriosis (a painful gynecologic disorder affecting up to 10% of women) are at an increased risk of suffering migraine headaches. Our proposed collection of migraine phenotype data on our endometriosis cohort will facilitate identification of genes underlying both disorders.
CAGE: Consortium For The Architecture Of Gene Expression
Funder
National Health and Medical Research Council
Funding Amount
$501,080.00
Summary
This research project is about understanding why some people are most susceptible to disease than others, by identifying genetic factors that influence the expression of genes that are important in disease. We will work with leaders in the field in Europe and the USA in an international research consortium to find genetic variants with an effect on gene expression and to link those genetic factors to disease. The project will provide new understanding about the biological basis of common disease ....This research project is about understanding why some people are most susceptible to disease than others, by identifying genetic factors that influence the expression of genes that are important in disease. We will work with leaders in the field in Europe and the USA in an international research consortium to find genetic variants with an effect on gene expression and to link those genetic factors to disease. The project will provide new understanding about the biological basis of common diseases.Read moreRead less
Exploiting SNP Data In Epidemiology And Genetics Through Multivariate Analysis Of Complex Traits
Funder
National Health and Medical Research Council
Funding Amount
$476,981.00
Summary
There is overlap in risk factors across multiple diseases, and some of that overlap is due to genetic factors. The availability of genome-wide DNA data on tens of thousands of patients for multiple diseases and healthy controls allows new questions to be asked and answered. For example, what is the overlap due to genes in disease risk for multiple sclerosis and rheumatoid arthritis? This project will develop and statistical genetic methodology to answer such questions and apply those methods to ....There is overlap in risk factors across multiple diseases, and some of that overlap is due to genetic factors. The availability of genome-wide DNA data on tens of thousands of patients for multiple diseases and healthy controls allows new questions to be asked and answered. For example, what is the overlap due to genes in disease risk for multiple sclerosis and rheumatoid arthritis? This project will develop and statistical genetic methodology to answer such questions and apply those methods to a range of important diseases.Read moreRead less
This study is aimed at identifying genetic variants that influence susceptibility to migraine. We plan to use DNA samples already collected from families with multiple migraine affected individuals and sequence a region on the X chromosome that has previously been identified as harbouring a migraine susceptibility gene. This project will identify gene(s) that contain variants contributing to migraine.