High-Throughout Identification And Targeting Of New Breast Cancer Genes.
Funder
National Health and Medical Research Council
Funding Amount
$640,210.00
Summary
Recent studies have identified DNA sequence variations within the human genome that are associated with an increased risk or can influence the outcome of breast cancer. This research program will identify the key genes affecting cancer development and assess their contribution to cancer growth. I will then use this knowledge to assess their suitability for drug development. Understanding how our DNA contributes to breast cancer will provide new avenues for prevention or treatment.
Clinical Classification Of Regulatory Variants In Breast Cancer Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$536,966.00
Summary
Variations in our genes can confer a risk of diseases including breast cancer. Determining the clinical significance of these variations is a major and increasing challenge for genetic counselors and clinicians. This project will evaluate the clinical significance of variants in the control regions of breast cancer susceptibility genes. This research will inform the development of guidelines for interpreting such variants in a clinical setting.
Post-GWAS Functional Characterisation Of Breast Cancer Susceptibility Loci
Funder
National Health and Medical Research Council
Funding Amount
$764,632.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known genes, suggesting that regulatory DNA sequences are responsible for the associated risk. The aim of this proposal is to identify and characterise these DNA sequences. Understanding how sequences variations in these regions contribute to breast cancer will provide novel avenues for therapy.
I am a clinician-scientist and endocrinologist most interested in clinical problems associated with bone, in particular the highly heritable disease of osteoporosis. I hope by studying genetic determinants of bone mass to determine the key genes involved, with the long term aim of informing the development of novel therapies for this common, painful and disabling disease.
An International Population-Based Study Into The Genetic Epidemiology Of Melanoma
Funder
National Health and Medical Research Council
Funding Amount
$408,768.00
Summary
Melanoma is the most aggressive form of skin cancer and is a major public health issue in Australia. This project aims to find genes and levels of sun exposure, plus ways the genes and exposure interact with each other, that increase people’s risk of melanoma and how long they survive after diagnosis. The results will help to identify people at a higher risk of disease earlier and also better predict prognosis in those already diagnosed.
Genomic And Functional Analyses Of A Novel Gene Implicated In Type 1 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$732,439.00
Summary
We have recently discovered a novel gene that contributes to the development of juvenile diabetes. Unfortunately, very little is known about the function of this gene. To better understand how this gene affects the immune system and contributes to disease, we have generated a unique mouse strain that has a dysfunctional copy of this gene. These mice will enable us to characterise this gene and potentially establish a new area of research in diabetes prevention.
Melanoma is one of Australia?s major cancer problems, but we still do not completely understand why certain people are at higher risk than others. This study is focussed on people who have developed melanoma at an early age (under 40yrs) and will compare their family history of cancer, skin features, genetic characteristics and various aspects of their previous sun exposure with people who don?t have melanoma. The large number of people involved and the fact that they will be selected at random ....Melanoma is one of Australia?s major cancer problems, but we still do not completely understand why certain people are at higher risk than others. This study is focussed on people who have developed melanoma at an early age (under 40yrs) and will compare their family history of cancer, skin features, genetic characteristics and various aspects of their previous sun exposure with people who don?t have melanoma. The large number of people involved and the fact that they will be selected at random from the population of Melbourne, Sydney and Brisbane which have very different melanoma rates, means that the study will be able to clarify what roles genes and environment play in the disease. It is intended to be an international benchmark in this regard, and Australia is the only country in which a study of this scope could be mounted. Potential benefits from this research will be a better understanding of the way sun exposure affects people differently, depending on their genetic makeup, the place of genetic testing in assessing people?s risk of melanoma, particularly if they have relatives with the disease, and way in which skin features like moles should be taken into account in that assessment. Finally, it is likely that better information about the types of genetic susceptibility to melanoma in the population will translate to more effective programs for the prevention of melanoma and for detection of melanomas efficiently at the earliest possible stage.Read moreRead less
Genetic Analysis Of Migraine And Comorbid Psychiatric Disorders Using Twin Families
Funder
National Health and Medical Research Council
Funding Amount
$554,450.00
Summary
Typical migraine, is a frequent, debilitating and painful disorder that normally affects people during their most productive years (up to 25% of females and 7.5% of males in Western populations). Additionally, several studies have demonstrated a cross-sectional relation between psychiatric disorders (namely anxiety and depression) and migraine in community samples. The World Health Organization (WHO) recently identified migraine and major depression among the world's top 20 leading causes of dis ....Typical migraine, is a frequent, debilitating and painful disorder that normally affects people during their most productive years (up to 25% of females and 7.5% of males in Western populations). Additionally, several studies have demonstrated a cross-sectional relation between psychiatric disorders (namely anxiety and depression) and migraine in community samples. The World Health Organization (WHO) recently identified migraine and major depression among the world's top 20 leading causes of disability, with an impact that extends far past the suffering individual, to the family and community. In both sexes of all ages, depression and migraine are the 1st and 19th leading causes of disability affected life years. Although both migraine and depression are highly prevalent in our society, their aetiologies remain relatively obscure and there are no laboratory based diagnostic tests that identify those who suffer from the disorders. Because so little is known about them, a positional cloning approach is the only feasible way to identify the molecular mechanisms underlying these disorders. This project will collect a sample with sufficient power to perform a genome wide linkage screen to i) identify novel susceptibility genes, and ii) confirm previously reported susceptibility genes for migraine and co-occurring psychiatric disorders. The susceptibility genes identified (and confirmed) in this sample will provide clues to the further elucidation of the complex molecular pathways of migraine (and co-occurring psychiatric disorders) and, finally, will help in the development of diagnostic tests and rational treatment strategies.Read moreRead less
From Linkage To Genes Conferring Susceptibility To Schizophrenia: Investigation Of Candidate Genes On Chromosome 6p
Funder
National Health and Medical Research Council
Funding Amount
$462,250.00
Summary
Schizophrenia is a potentially disabling disorder with severe impact on the individual, the family and the community. The risk that a child born today will develop schizophrenia is about 1%. Genetic factors play a major predisposing role in schizophrenia, but environmental factors contribute as well. The molecular causes of schizophrenia are yet to be discovered, as knowledge about complex brain functions and their disorders is rapidly increasing. The identification and characterisation of genet ....Schizophrenia is a potentially disabling disorder with severe impact on the individual, the family and the community. The risk that a child born today will develop schizophrenia is about 1%. Genetic factors play a major predisposing role in schizophrenia, but environmental factors contribute as well. The molecular causes of schizophrenia are yet to be discovered, as knowledge about complex brain functions and their disorders is rapidly increasing. The identification and characterisation of genetic factors involved in brain function and dysfunction is likely to bring about novel insights into the neural and molecular mechanisms underlying schizophrenia. There is evidence, reported by several groups including our own, that genes, co-segregating with schizophrenia in families are located in a region on chromosome 6p. By fine-grain genetic dissection of this region, we and others have found that the gene coding for the protein dysbindin is associated with schizophrenia. Our aim is to identify the DNA variant(s) in the dysbindin gene, as well as variants in other candidate genes that may be located in chromosome 6p. We will use state-of-the art methods and information on genes and DNA variants, made available through the Human Genome Project. Once genetic variants are identified, we will analyse gene expression in post mortem brain tissue of persons with schizophrenia and study the distribution and function of the proteins coded by the identified genes. Our ultimate goal is to identify specific genetic factors involved in the brain dysfunction characterising schizophrenia. If successful, this should lead to clues about the causes of the disorder. In addition, the study will contribute to the development of methods for early diagnosis and prevention. Possibly, the most important outcome will be the identification of molecular targets for novel and more specific pharmacological treatments that may eventually replace current symptom-oriented antipsychotic medications.Read moreRead less