High blood pressure affects 1 in 5 Australian adults and is a leading cause of mortality and morbidity from heart attack and stroke. The condition tends to run in families and genetic predisposition, in the face of environmental factors, leads to the elevation in blood pressure. My Lab has demonstrated the capacity of a cohort of affected hypertensive sibships we have collected to find loci for essential hypertension at a level that has achieved genome-wide statistical significance and has been ....High blood pressure affects 1 in 5 Australian adults and is a leading cause of mortality and morbidity from heart attack and stroke. The condition tends to run in families and genetic predisposition, in the face of environmental factors, leads to the elevation in blood pressure. My Lab has demonstrated the capacity of a cohort of affected hypertensive sibships we have collected to find loci for essential hypertension at a level that has achieved genome-wide statistical significance and has been published in a leading molecular genetics journal. Moreover, this previous work, which included fine-mapping after finding a suggestive locus following a scan of chromosome 1, not only demonstrated significant linkage, but also went on to compare gene markers between a different cohort of (unrelated) hypertensive subjects with 2 affected parents (and early-onset, moderate to severe hypertension) and control normotensive matched subjects with unaffected parents, to identify a likely candidate gene. This same approach will be used to complete the rest of the genome. The discovery of all of the genes for essential hypertension will be an important prelude to: (1) developing new, more effective treatments, since the gene products responsible will be able to be targetted by novel therapeutics, (2) genotyping individuals early in life in order to advise them what their risk is, and thus allow couselling about lifestyle modification, (3) more logically apply existing treatment strategies according to the volume-neural-vasoconstrctor component of the contribution to high blood pressure.Read moreRead less
Social media, weather forecasting and mineral exploration are driven by Big Data enabled by new technologies. Likewise, disease prevention, diagnosis and prediction is moving towards personalised and precision medicine, facilitated by novel genomics technologies. This Program of research will develop analysis methods and tools and apply them to clinical genomics data in neurological and psychiatric disorders, thereby paving the way for the translation of genomic tools to common diseases.
Determining The Natural History Of Localized High-risk Melanoma And Risk Factors For Melanoma Metastasis
Funder
National Health and Medical Research Council
Funding Amount
$103,980.00
Summary
This PhD thesis aims to describe 2-year survival rates of patients with localised melanoma. We will investigate risk factors and patterns of melanoma spread in patients with high-risk localised lesions. Risk factors for developing ulcerated versus non-ulcerated melanomas will be explored. We aim to describe support service use in melanoma patients in rural, regional and urban areas in Queensland.
Sudden Cardiac Arrest: Improving Detection Of Patients At Risk
Funder
National Health and Medical Research Council
Funding Amount
$838,845.00
Summary
Sudden cardiac death accounts for ~10% of deaths in our community. Many of these deaths occur in people who could otherwise have had many more years of productive life ahead of them. The aim of our research is to determine the underlying mechanisms so that we can develop better tools for detecting underlying problems before they become life threatening and potentially develop new treatments to modify the underlying causes.
Elucidation Of The Genetic Mechanisms Of Primary Aldosteronism: The Most Common, Curable Form Of Hypertension
Funder
National Health and Medical Research Council
Funding Amount
$334,338.00
Summary
Hypertension is a major cardiovascular risk factor that affects 10-40% of the population. The steroid hormone aldosterone controls blood pressure and plays a significant role in hypertension. Primary Aldosteronism (PAL), a condition caused by the excessive production of aldosterone, is the most common, curable form of hypertension. I will identify the molecular mechanisms responsible for PAL, to advance the development of new diagnostic tools and identification of novel therapeutic targets.
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.
Identifying Glaucoma Risk Variants In The Norfolk Island Genetic Isolate
Funder
National Health and Medical Research Council
Funding Amount
$658,447.00
Summary
Primary open angle glaucoma is the most common form of glaucoma. In this project we will focus on the identification of functional genetic variants influencing development of this disorder, using a powerful whole exome sequencing approach in a large multigenerational pedigree from the Norfolk Island population isolate. The identification of genes influencing glaucoma development would provide invaluable clues to aid in defining the pathophysiology of this common disease.
Statistical Analysis Of An International 10 Year Prospective Family Study Of Gene-environment Interactions On Risk Of Female Breast Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$450,198.00
Summary
This study will provide new and credible information on how the effects of environmental and lifestyle factors on breast cancer risk depend on a woman's underlying genetic susceptibility using a large, international 10 year prospective family study.