To Investigate The Role Of ATM Protein In Protecting Against Neurodegeneration
Funder
National Health and Medical Research Council
Funding Amount
$953,662.00
Summary
The overall aim of the project is to employ a rat model to investigate neurodegeneration in patients with ataxia-telangiectasia (A-T). Ataxia-telangiectasia is a complex multisystem disorder characterised by progressive neurological impairment, variable immunodeficiency and cancer predisposition. The rat model recapitulates the neurodegeneration in patients and thus this project will provide important insight into the nature of the defect as well as approaches for the treatment of the disorder.
Identifying Mitochondrial Genome Variants Associated With Familial Migraine Susceptibility
Funder
National Health and Medical Research Council
Funding Amount
$443,273.00
Summary
New therapeutic targets for migraine are desperately needed. Although studies have identified some migraine genes there remains considerable underlying genetic variation to be characterised. This study aims to identify functional variants in the mitochondrial genome that contribute to migraine susceptibility, utilising the isolated Norfolk Island population. Outcomes will determine the significance of the variants identified, potentially leading to new diagnostics.
Identifying Novel Gene Mutations For Molecular Diagnosis Of Familial Hemiplegic Migraine
Funder
National Health and Medical Research Council
Funding Amount
$623,460.00
Summary
This proposal aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples. We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques. Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.
Genomic Signposts, High-resolution Sequencing And Novel Genes In Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$333,694.00
Summary
Blindness is a very distressing sensory loss. Hereditary eye disorders account for the vision impairment in at least one-third of people who are registered as blind. These disorders cause blindness from a young age and work productivity is significantly impaired. This project will identify novel genetic factors in blinding eye disorders. Identifying these genetic factors will lead to better early detection methods for people and improved treatments to prevent the blindness.
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
Towards Better Treatments For Acral Melanoma Through Functional Genomics
Funder
National Health and Medical Research Council
Funding Amount
$1,456,823.00
Summary
Acral melanoma is an uncommon melanoma subtype with bad prognosis that has been poorly characterised at the molecular level. The project will conduct comprehensive analysis of acral melanoma at the DNA, RNA and protein levels. Through subsequent functional follow-up studies of key drivers of this cancer type we will identify novel drug targets to treat this disease.
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.
Co-operation Between GATA2 Mutation Or Expression And RAS Signalling In AML
Funder
National Health and Medical Research Council
Funding Amount
$860,601.00
Summary
We have identified a gene GATA2 which, when mutated, can lead to leukaemia (blood cancer). We will collect samples worldwide from families and individuals that carry GATA2 mutations and have developed leukaemia, and will screen for other genetic changes that contribute to leukaemia. We have also identified a novel group of patients who have a low GATA2 activity and who also have mutations in the RAS gene, a known contributor to leukaemia. We will determine how these cooperate to cause leukaemia.
High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
An Investigation Into Pathogen-specific Factors Required For Drug-resistance And Viability Of Candida Albicans
Funder
National Health and Medical Research Council
Funding Amount
$337,614.00
Summary
We identified proteins required for growth and drug resistance of the fungus Candida albicans, a major hospital-acquired human pathogen. Candida infections target the immunocompromised and mortality is huge (?30-50%). We will use cell biology, genetics and biochemistry to characterise these proteins. Importantly, these factors are present in fungi, but absent from humans. Therefore our study will help development of new strategies for antifungal treatments.