Epilepsy: Molecular Basis And Mechanisms In The Era Of Functional Genomics
Funder
National Health and Medical Research Council
Funding Amount
$12,062,533.00
Summary
The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain imaging specialists. The team leads the world in the discovery of the genetic causes of epilepsy and epilepsy associated with intellectual disability. The team will continue to identify the genes underlying epilepsy, and study how genetic variations result in the development of seizures and will continue to develop advanced imaging techniques for these stud ....The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain imaging specialists. The team leads the world in the discovery of the genetic causes of epilepsy and epilepsy associated with intellectual disability. The team will continue to identify the genes underlying epilepsy, and study how genetic variations result in the development of seizures and will continue to develop advanced imaging techniques for these studies. This will include extensive laboratory studies, including the development of mice with the exact mutations that we find in the human condition. Stateof-the-art imaging techniques with magnetic resonance and positron emission tomography are used in human subjects to further understand the effects of the mutations on the structure and function of the brain. This will allow deep understanding of how seizures develop and may lead to new diagnostic methods and treatments. The laboratory and clinical aspects of the research are tightly integrated in this internationally leading collaborative program.Read moreRead less
This program, run by an established team with skills in public health, clinical epidemiology, biostatistics, health economics and behavioural science addresses the under-researched issues of whether, when and how to use medical tests. The elements of the program follow the sequence in which testing is often done: for screening (early detection), for diagnosis on which to base treatment decisions, and for monitoring the effects of treatment. A common approach throughout is the identification of t ....This program, run by an established team with skills in public health, clinical epidemiology, biostatistics, health economics and behavioural science addresses the under-researched issues of whether, when and how to use medical tests. The elements of the program follow the sequence in which testing is often done: for screening (early detection), for diagnosis on which to base treatment decisions, and for monitoring the effects of treatment. A common approach throughout is the identification of the benefits and harms of testing and assessing their trade-off; how benefits weigh up against harms. This research is relevant to all partners in healthcare, (consumers, clinicians and policy-makers), who currently are being tested or using tests without being fully informed about the accuracy and effects of these tests.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
Molecular Determinants Of Risk, Progression And Treatment Response In Melanoma
Funder
National Health and Medical Research Council
Funding Amount
$8,381,820.00
Summary
Melanoma is a major Australian health problem. NSW figures for 2002 show it to be the second most common cancer in men and women. It has a disproportionately heavy impact on productive years of the life of young Australians because it is the commonest cancer in those aged 15-45 years. The investigators are all associated with the Sydney Melanoma Unit (SMU), the world�s largest clinical service dedicated to the treatment of melanoma, treating >1200 new melanoma patients annually. We have also ....Melanoma is a major Australian health problem. NSW figures for 2002 show it to be the second most common cancer in men and women. It has a disproportionately heavy impact on productive years of the life of young Australians because it is the commonest cancer in those aged 15-45 years. The investigators are all associated with the Sydney Melanoma Unit (SMU), the world�s largest clinical service dedicated to the treatment of melanoma, treating >1200 new melanoma patients annually. We have also recruited large cohorts of individuals with high susceptibility to melanoma, both familial and population-based, throughout southeastern Australia. We aim to utilise these unique, 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. We will base this on consolidation of existing collaborative research into molecular predictors of risk, progression and treatment response in melanoma.Read moreRead less