Disorders of sexual development (DSDs) are surprisingly common, and often result in infertility, genital abnormalities, gender mis-assignment and long-term psychological trauma. In this Program we will pool our expertise in human molecular genetics, mouse developmental biology and protein chemistry to identify genes important for sex determination and development of the gonads, and discover how they contribute to DSD, in order to improve clinical care to patients with DSD.
Molecular Genetics Of Sex Determination And Gonad Development
Funder
National Health and Medical Research Council
Funding Amount
$4,580,898.00
Summary
Intersex disorders - ranging in severity from hypospadias (misplacement of the urethral opening) to complete sex reversal - are surprisingly common, with estimates as high as 4% of all live births. These disorders usually result in infertility, genital abnormalities, gender mis-assignment and long-term psychological trauma. The cause of these problems is most often the failure of the delicate network of gene regulation that is responsible for proper development of testes or ovaries in the embryo ....Intersex disorders - ranging in severity from hypospadias (misplacement of the urethral opening) to complete sex reversal - are surprisingly common, with estimates as high as 4% of all live births. These disorders usually result in infertility, genital abnormalities, gender mis-assignment and long-term psychological trauma. The cause of these problems is most often the failure of the delicate network of gene regulation that is responsible for proper development of testes or ovaries in the embryo. This research program will identify genes important for sex determination and development of the gonads, find out how these genes function and interact, and discover how they contribute to cases of aberrant sexual development in humans. Australia boasts three of the foremost international researchers in sex determination. Their contributions have been fundamental to the advancement of the field, including the identification and characterization of the master testis determining gene and other genes critical for sex determination. They now propose to pool their expertise in human molecular genetics, mouse developmental biology and protein chemistry to bring spectacular advances in our knowledge of human sexual development and its associated disorders. This information will be used to bring improved clinical care to patients withdisorders of sexual development.Read moreRead less
Hormonal Regulation Of Reproduction In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$7,580,681.00
Summary
Achieving the goal of reproductive health for all is a public health issue and is limited by factors including, problems of infertility, inadequacies of the fertility-regulating methods and the high incidence of reproductive tract diseases, including cancers. The overall objective of this Program Grant is to discover, understand and apply new knowledge about reproductive processes in health and disease to alleviating infertility, improving contraceptive choice and efficacy and combating diseases ....Achieving the goal of reproductive health for all is a public health issue and is limited by factors including, problems of infertility, inadequacies of the fertility-regulating methods and the high incidence of reproductive tract diseases, including cancers. The overall objective of this Program Grant is to discover, understand and apply new knowledge about reproductive processes in health and disease to alleviating infertility, improving contraceptive choice and efficacy and combating diseases in the reproductive organs.Read moreRead less
Control Of Cell Proliferation And Differentiation In Breast And Prostate Cancer
Funder
National Health and Medical Research Council
Funding Amount
$5,043,011.00
Summary
Breast and prostate cancer are the most commonly diagnosed cancers in women and men respectively, together accounting for >25% of all newly diagnosed cancers in Australia and other developed countries. Although significant improvements in the management of these cancers have occurred in the past 20 years further research is needed to better understand the molecular mechanisms of disease development and progression. Such research is critical to the better management and ultimate control of the ....Breast and prostate cancer are the most commonly diagnosed cancers in women and men respectively, together accounting for >25% of all newly diagnosed cancers in Australia and other developed countries. Although significant improvements in the management of these cancers have occurred in the past 20 years further research is needed to better understand the molecular mechanisms of disease development and progression. Such research is critical to the better management and ultimate control of these diseases through better treatments and prevention. A multidisciplinary team of cancer researchers at the Garvan Institute of Medical Research, with a 10 year track record of discovery and application of their research into breast and prostate cancer, will employ state-of-the-art research tools to identify new molecules and molecular pathways involved in these diseases. This new information will facilitate the improved management of these cancers through improved assessment of disease progression at the time of diagnosis and the development of new drugs and strategies for treatment and prevention.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.
Neourobiology Of Human Epilepsy: Genes, Cellular Mechanisms,network And Whole Brain
Funder
National Health and Medical Research Council
Funding Amount
$17,652,824.00
Summary
The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the genetic causes of epilepsy. They will continue to identify genes underlying epilepsy and study how genetic variations result in development of seizures. Advanced brain imaging will be used to understand the effects of genetic variation on brain structure and function. This study may lead to new diagnostic methods and treatments for epilepsy.
Molecular Determinants Of Risk, Progression And Treatement Response In Melenoma
Funder
National Health and Medical Research Council
Funding Amount
$12,947,193.00
Summary
Melanoma is a major Australian health problem. It is the third most common cancer in men and women and has a disproportionately heavy impact on productive years of life because it is the common cause of cancer death in younger adults. The investigators are all associated with the Melanoma Institute Australia, incorporating the Sydney Melanoma Unit (SMU). MIA is the world’s largest clinical service dedicated to the treatment of melanoma, treating >1500 new melanoma patients annually and mainta ....Melanoma is a major Australian health problem. It is the third most common cancer in men and women and has a disproportionately heavy impact on productive years of life because it is the common cause of cancer death in younger adults. The investigators are all associated with the Melanoma Institute Australia, incorporating the Sydney Melanoma Unit (SMU). MIA is the world’s largest clinical service dedicated to the treatment of melanoma, treating >1500 new melanoma patients annually and maintains a repository of clinical data on melanoma and a large melanoma tissue bank. The Program has also recruited large numbers of people from the community, as well as people with a strong family history of melanoma, in order to study its causes. It aims to utilise these internationally-recognised resources to develop a scientific basis for 1) improved management of individuals at high risk for development and progression of melanoma, and 2) improved treatment of patients with early and disseminated melanoma, in an era of rapid change in the prospects of successfully treating this dangerous cancer. The Program will do this by consolidating and extending its existing collaborative research, supported by NHMRC since 2006.Read moreRead less