To Improve The Diagnosis Of Limb-girdle Muscular Dystrophy Using New Genetic Techniques Of DNA Sequencing Known As Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$101,991.00
Summary
Diagnosis of Limb-girdle muscular dystrophy (LMGD) is complex with only about 50% success rate. New technology, Next Generation Sequencing (NGS) can identify a diagnosis substantially quicker and cheaper than standard methods, however is only available in research. The results of this study will form a core resource that can be augmented in the future to identify rarer forms of LGMD, so that all patients can be provided with a genetic diagnosis.
Integrated Clinical And Scientific Studies In Post-Operative Crohn’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$71,606.00
Summary
Crohn’s disease is a chronic inflammatory bowel condition; the incidence in Australia is now amongst the highest in the world. Most patients require repeated invasive bowel surgeries when disease recurs. Using data from a past clinical trial comparing preventive treatments for recurrence; genetic, immunological and microbiological testing will be done on existing patient samples. This extensive data set will be analysed using systems biology methods to identify the cause of Crohn’s disease.
Establishing The Use Of Bacterial Genomics In Australia
Funder
National Health and Medical Research Council
Funding Amount
$157,669.00
Summary
We propose to establish a set of fully assembled reference genomes through new technologies and methods to analyse data from high throughput genome sequencing of important bacterial pathogens in Australia. We aim to demonstrate the capabilities of genome sequencing in clinical situations by comparing the genomes from clinical bacterial isolates to the established and annotated reference genomes.
Clinical And Microbiological Predictors Of Post-operative Crohn's Disease Recurrence
Funder
National Health and Medical Research Council
Funding Amount
$120,253.00
Summary
The multi-centre randomised controlled POCER (Post-Operative Crohn’s Disease Recurrence) trial has shown that following “curative” surgery, the anti-tumour necrosis factor drug adalimumab prevents recurrent disease in almost all patients. I will examine the multiple factors that contribute to disease recurrence including assessment of mucosal microbiota, faecal biomarkers and serological antibody markers in patients with Crohn's disease. Results will improve clinical outcomes and change internat ....The multi-centre randomised controlled POCER (Post-Operative Crohn’s Disease Recurrence) trial has shown that following “curative” surgery, the anti-tumour necrosis factor drug adalimumab prevents recurrent disease in almost all patients. I will examine the multiple factors that contribute to disease recurrence including assessment of mucosal microbiota, faecal biomarkers and serological antibody markers in patients with Crohn's disease. Results will improve clinical outcomes and change international practice.Read moreRead less
Parathyroid Hormone-related Protein (PTHrP), Common Genetic Variants In The PTHrP Gene (PTHLH), And Breast Cancer Risk And Survival
Funder
National Health and Medical Research Council
Funding Amount
$120,253.00
Summary
In a partnership between Peter MacCallum Cancer Centre, St Vincent's Hospital, and The University of Melbourne, we are investigating the role of PTHrP, a peptide integral to the growth and spread of Cancer. Initially thought to facilitate cancer spread, recent studies suggest it may actually be protective. In a new approach, we will analyse new DNA databases and patient data from around the world. We hope to extend our understanding of PTHrP, and perhaps find novel drug and therapeutic targets.