Many recent gene mapping efforts have focused on population based approaches instead of previously used family based approaches. One of the limiting factors with population based approaches is the cost of the technology - each participant must be evaluated (or genotyped) for hundreds of thousands of genetic markers. The cost can be reduced by using an approach which pools individuals together for genotyping, with statistical models used to deal with the problems that this creates.
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 molecular geneticist with a main research focus in the identification and characterisation of genes and molecular pathways involved in intellectual disability and epilepsy.
Incorporating Genetic Information Into The Diagnosis And Treatment Of Cancers And Mental Health
Funder
National Health and Medical Research Council
Funding Amount
$123,502.00
Summary
Genetic information could improve diagnosis and selection of treatment for conditions such as cancer and psychosis. This aim of this research is to improve methods for using family history to diagnose patients, and to identify some of the genes involved in response to anti-cancer and anti-psychotic medications. This type of information can then be used to determine which drugs patients should be prescribed before starting treatment.
Identification Of A Genetic Defect Characterized By Radiosensitivity And Defective P53 Stabilization
Funder
National Health and Medical Research Council
Funding Amount
$267,750.00
Summary
Radiation is an important therapeutic agent for the treatment of a variety of cancers. However, radiation also causes cancers, certainly at high doses but it remains unclear as to the threat from low dose radiation eg in the vicinity of radiation accidents and at high altitudes. A greater understanding of the threats of radiation exposure is possible from the study of a number of rare syndromes characterized by extreme sensitivity to radiation and predisposition to develop cancer. The identifica ....Radiation is an important therapeutic agent for the treatment of a variety of cancers. However, radiation also causes cancers, certainly at high doses but it remains unclear as to the threat from low dose radiation eg in the vicinity of radiation accidents and at high altitudes. A greater understanding of the threats of radiation exposure is possible from the study of a number of rare syndromes characterized by extreme sensitivity to radiation and predisposition to develop cancer. The identification of new syndromes with radiosensitivity assists in delineating the overall response to radiation and the connection with cancer. This project is designed to identify the molecular basis of what appears to be a novel defect. It has some of the characteristics of a well described syndrome ataxia-telangiectasia (A-T), namely signs of neurodegeneration and sensitivity to radiation but the protein defective in A-T appears to have normal function in this case. A comprehensive investigation of a number of pathways of radiation signaling is planned to identify the nature of the defect.Read moreRead less
A knockout approach to identifying genes involved in epidermal development and homeostasis. These studies will identify new genes which play a role in the development or maintenance of the skin, some of which may subsequently be shown to play a role in disease. The project capitalises on an investment of tens of millions of dollars by the Wellcome Trust in generating a significant cohort of knockout mice. Our involvement in this international initiative will ensure Australia's participation in ....A knockout approach to identifying genes involved in epidermal development and homeostasis. These studies will identify new genes which play a role in the development or maintenance of the skin, some of which may subsequently be shown to play a role in disease. The project capitalises on an investment of tens of millions of dollars by the Wellcome Trust in generating a significant cohort of knockout mice. Our involvement in this international initiative will ensure Australia's participation in a project at the forefront of mouse genetics, using cutting edge infrastructure and technologies to provide insights into the complement of genes involved in skin biology. Models of interest will be repatriated to Australia for further study capitalising on existing infrastructure provided through the NCRIS funding program. Read moreRead less
Genetic And Bioinformatic Analysis Of Complex Human Diseases
Funder
National Health and Medical Research Council
Funding Amount
$8,752,567.00
Summary
Some human diseases are common in families; examples include prostate cancer, blood cancers, epilepsy and diabetes. Therefore, close relatives of individuals with a disease have an increased risk of being affected by this disease, implying a genetic basis. Finding the cause of these diseases is difficult, we will be developing novel approaches to the identification of genes responsible for these diseases. This is the first step towards the development of treatments for affected individuals.
Genome-wide Association Studies Of Biomedical Traits And Endophenotypes For Complex Disease
Funder
National Health and Medical Research Council
Funding Amount
$295,804.00
Summary
The burden of common complex diseases, such as cardiovascular disease is substantial to the health care system. These diseases are caused by genes and environments as well as their interactions. The proposed project will identify genes affecting the susceptibility of individuals to complex diseases. Discovery of such genes will be important for their diagnosis, prevention and treatment and may serve as an important resource for future personalized medicine.
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.
Fast tracking pea weevil resistance into field pea cultivars through interspecific hybridisation. Field pea is a high value export product of Australia and increased adoption will lead to greater sustainability of agriculture, improved farm income and value adding opportunities (eg. food industry) in regional Australia. Novel breeding tools used within this project will accelerate the development of pea weevil resistant field peas that are less dependent on the application of pesticides than cur ....Fast tracking pea weevil resistance into field pea cultivars through interspecific hybridisation. Field pea is a high value export product of Australia and increased adoption will lead to greater sustainability of agriculture, improved farm income and value adding opportunities (eg. food industry) in regional Australia. Novel breeding tools used within this project will accelerate the development of pea weevil resistant field peas that are less dependent on the application of pesticides than current varieties. Their availability will encourage further uptake of field pea into Australian cropping systems, contributing to environmentally sustainable farming systems by improving soil nitrogen levels and reducing the environmental effect of pesticides.Read moreRead less