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.
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
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.
Major Histocompatibility Complex (MHC) Genetics Of Ankylosing Spondylitis
Funder
National Health and Medical Research Council
Funding Amount
$568,612.00
Summary
Ankylosing spondylitis (AS) is the prototypic condition of a group of types of inflammatory arthritis called 'seronegative spondyloarthropathies'. These conditions are the most common form of inflammatory arthritis in white populations and occur worldwide. One third of the risk of developing AS is determined by genes within a region called the 'major histocompatibility complex' (MHC), in addition to the gene HLA-B27, the main gene causing AS. We aim to identify the remaining MHC genes.
The Immunogenetics Of Ankylosing Spondylitis: A Genetic And Functional Investigation Of IL23R And Related Genes
Funder
National Health and Medical Research Council
Funding Amount
$536,679.00
Summary
Ankylosing spondylitis (AS) is a common inflammatory arthritis which causes primarily back pain and stiffness, and affects 1-250 individuals. Our group identified association between tagging genetic markers in the gene IL23R and AS, and our preliminary data suggests some related genes are involved as well. This study aims to identify the key genetic variants involved and determine the mechanism by which they cause AS.
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.
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.
Environmental Risk Factors For Iron Overload-related Disease In A Cohort Study Of Hereditary Haemochromatosis
Funder
National Health and Medical Research Council
Funding Amount
$152,936.00
Summary
Results published last year from our Melbourne HealthIron study of hereditary haemochromatosis (iron overload disease) show that almost one third of the 50,000 men genetically at risk of iron overload in Australia will develop symptoms of disease including fatigue, arthritis and liver damage. We will use data from the recent follow-up of the Health2020 cohort, of which HealthIron is a sub-study, to determine environmental risk factors for progression to disease in people with iron overload.
Early Versus Delayed Therapeutic Venesection For The Prevention Of Hereditary Haemochromatosis
Funder
National Health and Medical Research Council
Funding Amount
$196,012.00
Summary
This study will investigate treatment by blood removal for the inherited iron overload condition hereditary haemochromatosis: Is treatment more effective in reducing risk of disease if performed early as a preventive measure rather than later after diagnosis with symptoms? Details of the lifetime history of blood donation from the Australian Red Cross Blood Service will be combined with existing information from questionnaires and clinical examination of 1,439 study participants in Melbourne.
The Role Of Insulin Hypersecretion In Beta Cell Dysfunction In Type 2 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$318,622.00
Summary
The treatment of diabetes involves the use of drugs that stimulate the release of insulin from the pancreas to reduce the high blood sugar levels. However, we believe that while in the short term this is a good strategy, in the long-term it damages the cells that produce insulin leading to a worsening state of diabetes. It is the aim of this application to understand the mechanisms by which the insulin producing cells are damaged when forced to oversecrete insulin.