Integration Of Genetic Testing For Risk Associated Genomic Variants And Rare Predisposition Genes Into The Management Of High Risk Hereditary Breast Cancer Families
Funder
National Health and Medical Research Council
Funding Amount
$645,457.00
Summary
Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.
A Cohorts-based Approach To Define Monogenic Causes Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$824,841.00
Summary
New genomic technologies are transitioning from research to being used for routine genetic diagnosis. Rare diseases have been proposed to be one of the key beneficiaries of this translation. Collectively, rare diseases affect 6-8% of the population or ~20,000 births each year in Australia, mostly with serious health implications. Our study addresses the technical, bioinformatic and corroborative challenges needed for accurate diagnosis of a large group of rare diseases.
Uncovering The Impact Of Tandem Repeat Variation On Both Common And Syndromic Forms Of Paediatric Obesity
Funder
National Health and Medical Research Council
Funding Amount
$619,622.00
Summary
We are currently in the middle of a world-wide obesity epidemic. While much of the increase in obesity prevalence is due to diet and a sedentary lifestyle, a significant proportion of risk of childhood obesity is thought to have a genetic basis. A proportion of our DNA consists of repeated DNA units, like a genetic stutter, and the number of repeats is variable in the population. We will measure the repeat number at repeats across the genome to search for changes associated with obesity.
Evaluating The Genetic Contribution To Rheumatic Heart Disease Pathogenesis In Australian Aboriginal And Torres Strait Islander Communities
Funder
National Health and Medical Research Council
Funding Amount
$1,782,074.00
Summary
Rheumatic heart disease is highly prevalent in Aboriginal people in Australia and leads to early cardiac disease. Despite decades of research, the underlying genetic mechanisms for why it occurs are not well understood. We are conducting a genetic study to better understand why some people are susceptible to RHD and others are not. The study will involve substantial Aboriginal leadership and consultation and will be a model for the conduct of genetic studies in Aboriginal populations.
Diagnosis Of Inherited Genetic Disorders Using DNA Reference Standards
Funder
National Health and Medical Research Council
Funding Amount
$690,820.00
Summary
Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.
Genomic Risk Of Coeliac Disease In First-degree Relatives
Funder
National Health and Medical Research Council
Funding Amount
$631,757.00
Summary
Coeliac disease is a common and strongly genetically determined inflammatory disorder triggered by gluten exposure. Because of its substantial genetic component, familial risk is substantial yet currently the actual risk is poorly quantified. We aim to use genomic profiling to construct and validate a novel risk score which can accurately determine which family members of coeliac disease cases are most at risk themselves.
Large-Scale Multi-Omic Analysis And Risk Prediction Of Complex Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$321,414.00
Summary
A major aim of medicine is to prevent disease, which is often more successful and cost-effective than treating an already existing condition. Common diseases, such as autoimmune and cardiovascular diseases, have a predisposing genetic basis. We will conduct genetic analysis of large datasets of coeliac disease and cardiovascular disease to better identify individuals at increased risk and to better understand the underlying biological processes through which genetics act to affect one's risk.
Synthetic DNA Standards For Clinical Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$870,005.00
Summary
Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.
The Interaction Between The Host And Pathogen Genetics In Susceptibility To Pulmonary Tuberculosis
Funder
National Health and Medical Research Council
Funding Amount
$390,294.00
Summary
People infected with the bacteria causing tuberculosis (TB) have different clinical fates. Some people remain well with dormant infections, some get lung disease and survive, others die. We are investigating the interplay between the human host and the bacteria causing disease by identifying genetic variants in both. This will enable us to determine what is important in the defence against this disease. Knowledge of the different TB disease processes is critical for future rational design of new ....People infected with the bacteria causing tuberculosis (TB) have different clinical fates. Some people remain well with dormant infections, some get lung disease and survive, others die. We are investigating the interplay between the human host and the bacteria causing disease by identifying genetic variants in both. This will enable us to determine what is important in the defence against this disease. Knowledge of the different TB disease processes is critical for future rational design of new TB vaccines and treatments.Read moreRead less
As a molecular geneticist, I am interested in how and why genetic mutations occur, how these changes cause disease or disease predisposition, and ways of better treating and monitoring genetic disease. The ‘model diseases’ I am most interested in are blood cell diseases such as autoimmunity (e.g. arthritis) and leukaemias.