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.
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.Read moreRead less
Characterising Signals Important For Lymphangiogenesis During Development And Disease.
Funder
National Health and Medical Research Council
Funding Amount
$604,938.00
Summary
Lymphatic vessels are a vital component of the cardiovascular system. Abnormalities in the growth and development of lymphatic vessels are associated with human disorders including cancer, lymphoedema and inflammatory diseases. The focus of this application is to characterise signals that direct the construction of lymphatic vessels, with the aim of identifying targets to which novel therapeutics for the treatment of lymphatic vascular diseases could be generated.
Novel Methods For Promoting Organ Development And Growth
Funder
National Health and Medical Research Council
Funding Amount
$390,203.00
Summary
A revolutionary new therapy for treatment of growth restricted fetuses and premature babies is being developed through the administration of Colony Stimulating Factor (CSF-1). We have evidence that CSF-1 therapy can promote kidneys and lungs to continue development and maturation after birth. This exciting new finding allows for the application of CSF-1 therapy for both the treatment of premature babies and unborn babies with kidney defects.
Priming The Maternal Immune Response To Resist Inflammatory Disorders Of Pregnancy
Funder
National Health and Medical Research Council
Funding Amount
$920,972.00
Summary
Preeclampsia and preterm birth are common conditions affecting >15 million pregnancies annually. An underlying cause is the mother’s immune response, which can react adversely to the fetus causing an inflammatory reaction. This project seeks to find ways to strengthen the maternal immune system beginning before conception. The work will provide insights upon which to advise intending parents and will inform development of new treatments options to protect susceptible women.
Regulation Of VEGFR Trafficking And Signal Transduction By The Ubiquitin Ligase Nedd4
Funder
National Health and Medical Research Council
Funding Amount
$388,347.00
Summary
Our recent work has discovered that the Nedd4 gene is crucial for the growth and development of blood vessels and lymphatic vessels. Our data suggest that Nedd4 controls vessel growth by regulating the levels and signalling activity of the key vascular growth factor receptors VEGFR-2 and VEGFR-3. The goals of this proposal are to define precisely how Nedd4-1 regulates the activity of these receptors and how VEGFR signalling could be better targeted to treat vascular disorders.
Embryo genomics for engineering change. The proposed research program will contribute to areas that are critically important for Australia, such as agriculture, animal biodiversity, biomedicine, human health and biosafety. By addressing the high economic losses due to early embryonic mortality in farm animals, results from this research will enhance the competitiveness of Australian agriculture and biomedical research. The establishment of a world class research Centre for Animal Biotechnology a ....Embryo genomics for engineering change. The proposed research program will contribute to areas that are critically important for Australia, such as agriculture, animal biodiversity, biomedicine, human health and biosafety. By addressing the high economic losses due to early embryonic mortality in farm animals, results from this research will enhance the competitiveness of Australian agriculture and biomedical research. The establishment of a world class research Centre for Animal Biotechnology at the University of Adelaide will create a major addition to the national research base. The Centre will develop technology platforms to support various groups across the entire Australian scientific community.Read moreRead less
Special Research Initiatives - Grant ID: SR200200446
Funder
Australian Research Council
Funding Amount
$247,058.00
Summary
Rebuilding Troubled Regions: The Difference that Space Makes. This project aims to examine economic restructuring processes focusing on the parts of regional Australia that are being left behind by globalisation. The project will examine patterns of firm entry and exit in disadvantaged local economies following major plant closures and identify the causal pathways associated with sustainable employment and industry growth. The project will deploy the innovative methodology of Qualitative Compara ....Rebuilding Troubled Regions: The Difference that Space Makes. This project aims to examine economic restructuring processes focusing on the parts of regional Australia that are being left behind by globalisation. The project will examine patterns of firm entry and exit in disadvantaged local economies following major plant closures and identify the causal pathways associated with sustainable employment and industry growth. The project will deploy the innovative methodology of Qualitative Comparative Analysis and utilise recently developed datasets with a view to isolating causal relationships. By generating new knowledge about how space, positioning, and state interventions temper the nature and form of business births and deaths, the project will generate new regional policy insights and approaches.Read moreRead less