Exploration Of The Role Of Microbes In Gastrointestinal Diseases
Funder
National Health and Medical Research Council
Funding Amount
$687,974.00
Summary
This fellowship will investigate diseases of the gastrointestinal tract of children. The research program will undertake a range of is a highly innovative projects including; development of an effective rotavirus vaccine to be administered to newborns; genetic characterisation of rotavirus strains able to escape vaccine protection; and how alterations in the human gut microbiome (bacteria and viruses) influence the development/relapse of CrohnÍs disease.
Investigations Into The Aetiology Of Giant Cell Arteritis
Funder
National Health and Medical Research Council
Funding Amount
$165,067.00
Summary
Despite much research the precise pathoetiology of giant cell arteritis is poorly understood. Both environmental and genetic factors are thought to contribute to disease development. Though to date, no overriding mechanism for disease development has been identified. This research will apply modern molecular techniques to further explore the pathogenic processes in this devastating disease which in turn will hopefully provide insight into novel treatment modalities.
The Use Of Next Generation Sequencing To Diagnose Neurogenetic Disease
Funder
National Health and Medical Research Council
Funding Amount
$55,689.00
Summary
For two groups of neurogenetic disease, leukodystrophy and polymicrogyria, the underlying genetic cause is not known for at least 50% of cases. In these cases, patients and their families do not have access to accurate genetic counselling, prognostic information or targeted therapeutics. This study will use new genetic technologies to identify the specific genetic causes underlying these diseases. These results will improve patient care and our understanding of the disease mechanisms.
Uncovering The Aetiology Of Myopia Through Identification Of Refraction And Ocular Biometric Genes
Funder
National Health and Medical Research Council
Funding Amount
$697,786.00
Summary
Myopia or short-sightedness affects 1 in 4 people in the Western world and is a major source of uncorrected vision loss, as well as blindness. This proposal aims to identify genes in myopia using a new technique called genome wide association. We will apply this technique to individuals collected through a population based Eye study to allow us to identify these genes. The outcomes of this work will allow us to identify high risk individuals as well as develop new measures to prevent myopia.
Using Pharmacogenetics To Personalize Treatment Outcome To Ranibizumab (Lucentis) For The Eye Disease Age-related Macular Degeneration (AMD)
Funder
National Health and Medical Research Council
Funding Amount
$623,891.00
Summary
The drug Lucentis has revolutionized the treatment of age-related macular degeneration, one of the commonest causes of severe vision loss in Australia. Unfortunately, up to 25% of patients continue to lose vision despite this treatment. We will use the latest gene chip technology to identify the genetic variant responsible for this poor response. Having this information will allow us to personalise treatment for the patient leading to improvement in their vision.
Investigation Of The Role Of Specific Mucous Associated Bacteria In Children And Young Adults With Crohns Disease
Funder
National Health and Medical Research Council
Funding Amount
$431,764.00
Summary
The role of bacteria in Crohn's disease is well accepted however to date no conclusive agents have been identified. Recent animal studies have implicated mucus-associated bacteria. We have recently shown that such bacteria, the Helicobacteriaceae, are present in humans and children with Crohn's disease. The aim of this project is to determine in children and young adults the role of these bacteria in IBD thus providing information that could be used to design improved therapies for IBD.
Gene Identification In Familial Orofacial Clefts By Genomic Technologies
Funder
National Health and Medical Research Council
Funding Amount
$565,181.00
Summary
Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique t ....Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique that analyses all human genes.Read moreRead less
Microbial Involvement In The Development Of Inflammatory Bowel Disease
Funder
National Health and Medical Research Council
Funding Amount
$302,123.00
Summary
Despite extensive research investigating the causative agent(s) of Inflammatory Bowel Disease (IBD), the results of current studies remain inconclusive. One reason for this relates to study design and the sensitivity of techniques used. This project will investigate differences in the microbial composition and metabolic profiles of newly diagnosed IBD children as compared with matched controls. If successful, these results will provide insights into possible aetiological agent(s) of IBD.