Most eye diseases have a genetic contribution, whether rare disorders affecting children such as retinoblastoma or congenital cataracts through to common disorders of older people such as myopia, age-related macular degeneration or glaucoma. We will continue our successful research to find genes that cause these diseases and use this to improve patient care and prevent blindness. We will work out how families can use this genetic information to participate in trials to develop new treatments.
Melanoma is the 4th most common cancer diagnosed in Australia. Advanced melanoma frequently spreads to other organs and can acquire resistance to anti-melanoma treatments, making it fundamentally incurable. I am focused on investigating the mechanisms underlying melanoma disease progression. I will achieve this by comparing the biological nature of melanoma cells at different stages of disease and therapy-resistance to identify new targets for the more effective treatment of patients with melano ....Melanoma is the 4th most common cancer diagnosed in Australia. Advanced melanoma frequently spreads to other organs and can acquire resistance to anti-melanoma treatments, making it fundamentally incurable. I am focused on investigating the mechanisms underlying melanoma disease progression. I will achieve this by comparing the biological nature of melanoma cells at different stages of disease and therapy-resistance to identify new targets for the more effective treatment of patients with melanoma.Read moreRead less
Approaches To Therapy For The Skeletal Muscle Actin Diseases
Funder
National Health and Medical Research Council
Funding Amount
$912,078.00
Summary
We have shown that errors in a crucial muscle protein called actin cause muscle diseases that affect newborn children. These diseases are mainly very severe, causing death within the first year of life. Currently there is no cure. This project will investigate possible therapies for these diseases, such as viral delivery of a normal version of actin and finding a drug to overcome the weakness. Successful outcomes will crucially bring treatment closer for the patients.
Splice Correction As A Treatment For Rare Diseases
Funder
National Health and Medical Research Council
Funding Amount
$824,316.00
Summary
We propose that a strategy of bringing effective and personalised treatments to amenable patients with rare genetic diseases, though ambitious, is readily achievable and opportune. Importantly, a consensus approach will facilitate expediting potentially curative treatments for many patients with rare diseases that would be unlikely to be commercially viable if considered individually.
In Vivo Gene Transfer And Phenotype Correction Of Normal And Urea-cycle Deficient Primary Human Hepatocytes In Chimeric Mouse-human Livers: Towards Gene Therapy For Metabolic Liver Disease
Funder
National Health and Medical Research Council
Funding Amount
$493,747.00
Summary
Genetic liver disease imposes a major health and economic burden. Existing medical treatments are frequently inadequate, often necessitating liver transplantation which carries its own limitations and risks. Using a gene therapy approach we have achieved life-long cure of mice with OTC-deficiency, a condition with a high risk of disability and death in affected infants. This application focuses on translating this success in mice through to human therapy.
Improving Malaria Elimination Strategies With Genomics: Tackling The Unique Problems Posed By Plasmodium Vivax, And P. Falciparum Drug Resistance
Funder
National Health and Medical Research Council
Funding Amount
$327,193.00
Summary
Malaria parasites are becoming resistant to drugs, and some types can avoid treatment by hiding in the liver and recurring months later. Variation in human genes can also mean that some drugs are dangerous to certain people, or won’t work. DNA sequencing will allow us to understand the interplay between parasite and host genetics and the efficacy of drugs in the population, allowing us to provide ‘personalised’ treatments in that region.
Risk Factors, Mechanisms, And Treatment Of Knowlesi Malaria
Funder
National Health and Medical Research Council
Funding Amount
$265,138.00
Summary
The monkey parasite P. knowlesi is an increasing cause of human malaria in SE Asia. My studies on the clinical epidemiology, diagnosis and treatment of non-severe and severe malaria in Malaysia have changed policy. I will further define the clinical epidemiology of malaria patients in this area over time, assess risk factors for knowlesi malaria, and evaluate the role of human and parasite factors in disease severity, and treatment for reducing acute kidney injury in knowlesi malaria.
Development Of Lentiviral Vectors For The Treatment Of X-linked Severe Combined Immunodeficiency (SCID-X1)
Funder
National Health and Medical Research Council
Funding Amount
$71,434.00
Summary
The first successful gene therapy clinical trial was reported in 2000 with the treatment of X-linked severe combined immunodeficiency (SCID-X1), commonly known as “bubble-boy” disease. The subsequent development of leukaemia in 3 of 11 patients has prompted the need to develop alternative vectors for gene delivery, such as HIV-1-based lentiviral vectors. This project will evaluate the efficacy and safety of lentiviral vectors in vivo, and hence their therapeutic potential for treating SCID-X1.
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