A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
Bacterial Pathogenomics: Whole-genome Sequencing To Investigate Infection Transmission, Pathogenesis And Antibiotic Resistance
Funder
National Health and Medical Research Council
Funding Amount
$475,946.00
Summary
As bacterial superbugs – resistant to multiple antibiotics – dominate the headlines, the pipeline for new antibiotics has all but dried up. High-throughput DNA sequencing heralds a golden opportunity for infectious disease research. By studying the entire collection of genes - the genome - of large numbers of multidrug resistant bacterial strains, we aim to better understand the genetic changes that govern the emergence and global spread of superbugs and translate these findings into the clinic.
Evolution And Pathogenicity Of NDM-1 Positive Escherichia Coli
Funder
National Health and Medical Research Council
Funding Amount
$643,275.00
Summary
Antibiotic resistance (AR), as highlighted by the WHO, is the most pressing medical need of the 21C – some infections are now untreatable. Our research will focus on the new "superbug" NDM-1 positive E. coli. We will correlate AR and pathogenicity and explore the evolution of these "superbugs" using state-of-the-art sequencing. This research will benefit Australian medicine by predicting timelines of AR epidemics and by conducting the first analyses on the virulence potential of these strains.
Hedgehog Signalling In Limb And Craniofacial Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$494,544.00
Summary
Anomalies of the face and limbs are amongst the most common features of human birth defects, and their frequent association suggests that the same genes are involved in governing the development of the limbs and face during embryogenesis. We have used a genomics-based approach to identify genes involved in limb development based on their alteration in a mouse model which develops extra fingers and toes. Defects in this mouse result from changes in Gli3, a gene which is known to be important in b ....Anomalies of the face and limbs are amongst the most common features of human birth defects, and their frequent association suggests that the same genes are involved in governing the development of the limbs and face during embryogenesis. We have used a genomics-based approach to identify genes involved in limb development based on their alteration in a mouse model which develops extra fingers and toes. Defects in this mouse result from changes in Gli3, a gene which is known to be important in both limb and face development. Based on the organs in which our genes of interest are active, we believe that they will also play key roles in embryonic development of the limbs, face and other organs. We now plan to investigate the regulation of a subset of these genes based on analysis in mouse models of limb and face development. In addition, we have chosen to further analyse the function of a completely novel gene we have identified which our preliminary studies suggest may play a role in the normal development of the lip and palate. These studies have the potential to shed light on the processes governing how organs develop, as well as on the molecular basis of common birth defects such as polydactyly (extra fingers and toes) and cleft palate.Read moreRead less
Understanding The Role Of The Two Major Bacterial Pathogens In The Upper And Lower Airways Of Indigenous Children With Chronic Lung Disease
Funder
National Health and Medical Research Council
Funding Amount
$743,282.00
Summary
Lung infections are a major disease burden worldwide. Indigenous Australians are affected more; adults with severe lung disease can die in their 30s and 40s. These diseases start early, yet no in-depth studies of bacteria causing lung infections in children have been done. Our expert team proposes to use existing lung fluids from nearly 500 children with chronic lung disease (58% Indigenous), and state-of-the-art laboratory methods, to inform the design of vaccines to prevent lung disease.
Use Of Molecular Resistance Assays To Provide Alterative Oral Treatment Strategies For Gonorrhoea In Indigenous And Other High-risk Populations; A Randomised Cluster Trial
Funder
National Health and Medical Research Council
Funding Amount
$828,671.00
Summary
Gonorrhoea has now developed resistance to almost all antibiotics that have been used to treat it. In this study, we will investigate a new treatment approach that selects antibiotics on a patient-by-patient basis. We will use new molecular assays to first test if a gonorrhoea strain infecting a patient is susceptible to an antibiotic, and will then treat on the basis of this result. By doing so, we will optimize our use of antibiotics and improve treatment strategies for gonorrhea.
Use Of Statistical And Mathematical Models To Investigate Infectious Disease Transmission Dynamics To Better Inform Control Measures In Hospitals And The Community
Funder
National Health and Medical Research Council
Funding Amount
$408,388.00
Summary
Globally tuberculosis infects over 9 million people yearly. In low incidence countries TB is re-emerging, with HIV, drug resistance and migration driving this. Australia needs to examine the transmission of TB within our country and The Asia-Pacific region. This proposal will quantify the risk for importation of highly drug resistant TB into Australia and assess the factors that lead to outbreaks. Models will be informative for Australian TB policy development and contribute to regional and glob ....Globally tuberculosis infects over 9 million people yearly. In low incidence countries TB is re-emerging, with HIV, drug resistance and migration driving this. Australia needs to examine the transmission of TB within our country and The Asia-Pacific region. This proposal will quantify the risk for importation of highly drug resistant TB into Australia and assess the factors that lead to outbreaks. Models will be informative for Australian TB policy development and contribute to regional and global efforts for TB control.Read moreRead less
Identifying Long-range Regulatory Elements Of The Breast Cancer Susceptibility Gene, BRCA1
Funder
National Health and Medical Research Council
Funding Amount
$612,842.00
Summary
BRCA1 is a breast cancer susceptibility gene implicated in both familial and sporadic breast cancers. The mechanisms controlling BRCA1 expression are poorly understood. We will identify DNA sequences critical for regulation of the BRCA1 gene. We hypothesise that these regions are mutational hot spots conferring an increased breast cancer risk. A better understanding of the pathways responsible for promoting BRCA1-associated breast cancer will provide important diagnostic and treatment targets.
Functional And Genomic Analysis Of The Globally Disseminated Multidrug Resistant Escherichia Coli ST131 Clone
Funder
National Health and Medical Research Council
Funding Amount
$825,537.00
Summary
Uropathogenic Escherichia coli (UPEC) is a major cause of urinary tract infections (UTI) and sepsis. Recently, a highly virulent clone of UPEC (E. coli ST131) that is resistant to multiple types of antibiotics has emerged and spread worldwide. This project uses genomic and high-throughput functional analysis methods to understand E. coli ST131 virulence and resistance. The outcomes of the work will be a better understanding of how E. coli ST131 causes disease, and potentially new treatment regim ....Uropathogenic Escherichia coli (UPEC) is a major cause of urinary tract infections (UTI) and sepsis. Recently, a highly virulent clone of UPEC (E. coli ST131) that is resistant to multiple types of antibiotics has emerged and spread worldwide. This project uses genomic and high-throughput functional analysis methods to understand E. coli ST131 virulence and resistance. The outcomes of the work will be a better understanding of how E. coli ST131 causes disease, and potentially new treatment regimes for UTI.Read moreRead less
A Multi-setting Intervention To Reduce Sedentary Behaviour, Promote Physical Activity And Improve Childrens Health
Funder
National Health and Medical Research Council
Funding Amount
$860,343.00
Summary
Sedentary behaviours and physical inactivity play a major role in the rising prevalence of obesity among children in Australia. This intervention study will take place in the school and family settings which play a critical role in shaping children's health behaviours. The objective is to determine whether a 2-year behavioural intervention reduces sedentary behaviour and promotes physical activity and results in improved health among 8-9 year old children.