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Uncovering A Novel Genetic Interaction That Governs Blood Vessel Development In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$626,557.00
Summary
Blood vessels are a vital component of the cardiovascular system. Abnormalities in the growth and development of blood vessels are associated with human disorders including cardio-vascular disorders, cancer and inflammatory diseases. The focus of this application is to determine the molecular events that direct the construction of the blood vascular tree, with the aim of identifying targets to which novel therapeutics for the treatment of blood vascular diseases could be generated.
Investigation Of Processed SnoRNAs As Cryptic Regulators Of The Imprinted Prader-Willi Syndrome Locus
Funder
National Health and Medical Research Council
Funding Amount
$673,976.00
Summary
Prader-Willi syndrome (PWS) is a devastating disorder whose symptoms include intellectual disability and compulsive eating. PWS occurs when a piece of the genome is mistakenly deleted, but why this DNA is important is still not understood. Our data indicate that the deleted DNA encodes a suite of previously hidden genetic elements, and here we proposed using the latest high-throughput DNA and RNA sequencing and stem cell technologies to finally unravel this mystery.
Understanding The Pathogenesis Of Mitochondrial Disease Using IPS Cells
Funder
National Health and Medical Research Council
Funding Amount
$640,372.00
Summary
Induced pluripotent stem (iPS) cells are stem cells derived from adult skin cells that can be converted into cell types such as neurons. iPS cells offer great promise in understanding and treating inherited disorders. However, there are concerns that the “epigenetic memory” of iPS cells has not been completely erased, which may limit the utility of iPS cells. We will evaluate and validate the use of iPS technology in mouse and human models of inherited disorders affecting energy generation.
Identification Of Novel Genes Predisposing To Familial Colorectal Cancer By Full Exome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$158,188.00
Summary
A third of people who develop bowel cancer have a family history of the condition. Currently, we only understand the genes involved in a small number of these families. This proposal will use new genetic techniques to look for gene faults in the remaining families by sequencing all an individual’s genes simultaneously. By identifying new genes, we can accurately assess family members’ bowel cancer risk, effectively target surveillance and help reduce their risk of developing bowel cancer.
Gene Discovery And Functional Studies To Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.
Funder
National Health and Medical Research Council
Funding Amount
$381,343.00
Summary
Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development ....Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development of effective therapies.Read moreRead less
Development Of 'omics-based Approaches To Investigate Labelling Accuracy And Legality Of Herbal Medicine In Australia
Funder
National Health and Medical Research Council
Funding Amount
$494,883.00
Summary
Herbal medicines such as tradition Chinese medicine (TCM) are popular across Australia, but little has been done to ensure they are accurately labeled, don’t contain adulterants and that ingredients are legal. Preliminary work suggests that TCM, even those approved by regulators, contain pharmaceuticals and illegal species. Our research will develop a new two-pronged DNA and toxicological auditing toolkit with the aim of providing accurate information on herbal medicines for sale in Australia.
Identification And Characterisation Of A Novel Genetic Signature At The 5p15 Region Associated With Risk Of Prostate Cancer
Funder
National Health and Medical Research Council
Funding Amount
$610,974.00
Summary
We have recently replicated the genetic association of a region (5p15) with the risk of prostate cancer in Australian men. We now seek to identify the precise genetic variant behind this association, and the functional role of these novel gene/s and variants in disease pathology. Our results will provide a foundation for the development of sensitive and readily applicable lab-based screening tools to be used clinically and will also provide impetus for drug-targeted research by furthering our un ....We have recently replicated the genetic association of a region (5p15) with the risk of prostate cancer in Australian men. We now seek to identify the precise genetic variant behind this association, and the functional role of these novel gene/s and variants in disease pathology. Our results will provide a foundation for the development of sensitive and readily applicable lab-based screening tools to be used clinically and will also provide impetus for drug-targeted research by furthering our understanding on this multifactorial disease.Read moreRead less
Reconstitution Of B-cell Ontogeny In Btk-deficient Patient-derived CD34+ Cells In A Humanised Mouse Model: The Foundations For An Australian XLA Gene Therapy Trial
Funder
National Health and Medical Research Council
Funding Amount
$678,652.00
Summary
Gene therapy targeting the bone marrow has broad therapeutic potential in the management of genetic diseases, viral infections and cancers involving blood cells. In this proposal we plan to obtain bone marrow cells from patients with X-linked agammaglobulinaemia and show that their cells can be genetically repaired in the test tube and, when transferred back into a specialised mouse models, reconstitute the immune system. The results have the potential to underpin a human clinical trial.
Development Of A Bioinformatic Tool For The Rapid Identification Of Candidate Disease Genes
Funder
National Health and Medical Research Council
Funding Amount
$436,367.00
Summary
Candidate disease gene prediction systems assist geneticists by using biological data to suggest genes likely to be causative of diseases in regions of the genome delineated by genetic studies. This area has been enabled by completion of the Human Genome Project and increased availability of high-throughput experimental data and sophisticated bioinformatic tools. Identification of disease genes will contribute to an understanding of disease, as well as its prevention, diagnosis, and treatment.
MicroRNA serves as critical factors in diverse biological events. However, it remains poorly understood how microRNAs contribute to the regulation of lifespan and age-associated changes, such as alterations in metabolic activity and an increased incidence of disorders. We aim to understand how microRNAs regulate stress response pathways and caloric restriction-mediated lifespan extension using the nematode Caenorhabditis elegans, an excellent model organism for ageing biology.