High Resolution Mapping Of Genomic Regions Implicated In Migraine
Funder
National Health and Medical Research Council
Funding Amount
$392,545.00
Summary
Migraine is a frequent, debilitating and painful disorder that affects a significant proportion of the population. Using the diagnostic criteria of the international Headache Society, the prevalence of migraine has been estimated to be approximately 12%, with a recent study in the United States showing that migraine affects 4% of children, 6% of men and 18% of women. The aetiology of migraine is unknown and there are no laboratory based diagnostic tests to identify those who suffer from the diso ....Migraine is a frequent, debilitating and painful disorder that affects a significant proportion of the population. Using the diagnostic criteria of the international Headache Society, the prevalence of migraine has been estimated to be approximately 12%, with a recent study in the United States showing that migraine affects 4% of children, 6% of men and 18% of women. The aetiology of migraine is unknown and there are no laboratory based diagnostic tests to identify those who suffer from the disorder. Clinical diagnosis is currently based on patient symptom descriptions, with individual symptoms being shown to vary with age. Migraine is believed to have a genetic basis with specific environmental factors, such as particular foods, hormonal levels and fatigue, being capable of inducing attacks in predisposed individuals. Migraine shows strong familial aggregation with about 50% of those affected, having another close relative also affected with the disorder. At present the number of genes involved in the disorder is unknown and have not been identified. Recent studies in our laboratory have localised two migraine genes, one to chromosome 19 and the other to the X chromosome. More recently we have also found evidence for a third gene on chromosome 1. This study is aimed at fine scale mapping analysis of these three chromosomal regions in order to pinpoint the location of migraine genes. Our ultimate aim is to identify the molecular causes of this disorder. This would have important implications to both the diagnosis and treatment of migraine.Read moreRead less
Characterisation Of A New Localisation For Susceptibility To Inflammatory Bowel Disease On Chromosome 12
Funder
National Health and Medical Research Council
Funding Amount
$76,125.00
Summary
One of the greatest challenges facing contemporary gastroenterology is to understand the causes of the inflammatory bowel diseases in order to develop more effective therapies. Although there have been advances in treatment over the last few years, the causes of IBD are still not known. The existence of a genetic predisposition to IBD is now well established, and there is strong evidence that the disease is the result of the interaction of a number of different genes. To date, two genetic locali ....One of the greatest challenges facing contemporary gastroenterology is to understand the causes of the inflammatory bowel diseases in order to develop more effective therapies. Although there have been advances in treatment over the last few years, the causes of IBD are still not known. The existence of a genetic predisposition to IBD is now well established, and there is strong evidence that the disease is the result of the interaction of a number of different genes. To date, two genetic localisations (one on chromosome 16 and a second on chromosome 12) have been confirmed in multicentre studies. We have identified a novel localisation for disease susceptibility on chromosome 12 in the Australian population during the course of a genome scan on 73 multiplex inflammatory bowel disease families. (The importance of this localisation has been confirmed in English and American families.) This localisation is quite separate from that originally described and many genes separate the two localisations. We will refine the new localisation by fine scale mapping in the region of the localisation that we originally identified in pure Crohn's disease families. At this stage, the localisation appears not to be important in families suffering from ulcerative colitis or in families in which both CD and UC occurs (known as mixed families), though this finding will be tested. Using state of the art molecular genetics, we will then identify and characterise the gene involved. The significance of this project lies in the importance of this localisation to the understanding of underlying biochemistry and genetics of a complex disease in which multiple genes are segregating and interacting in, some as yet undefined manner.Read moreRead less
A Genome Wide Association Study For Endometriosis Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$946,750.00
Summary
Endometriosis is a common condition that affects up to 10% of women. Symptoms are severe pelvic pain, menstrual problems and infertility with major impacts on women's lives and relationships. Since 1996, 4,000 affected women plus their families have joined our genetic study. Our aim is to conduct a genome wide search to identify genes contributing to endometriosis. This knowledge will ultimately lead to better diagnosis and treatment for the millions of women who suffer the disease.