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.
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.
Dissecting Genetic Variation For Human Complex Diseases And Traits
Funder
National Health and Medical Research Council
Funding Amount
$135,821.00
Summary
Understanding the pattern of inheritance for human common diseases such as cancers, obesity, diabetes and mental illness, is of key importance for disease diagnosis, treatment and prevention. In this project, we will develop statistical methods and software tools to analyse DNA and clinical data to better understand the genetic basis of human common diseases and to predict a person�s risk of developing disease.
Exome Sequencing By NGS To Identify Rare Variants Affecting Type 2 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$570,425.00
Summary
Rates of type 2 diabetes are rising dramatically, and current efforts are failing to stem its progression. More information about why the disease develops is urgently needed. We apply the latest technological innovations in DNA analysis to accelerate the discovery of the mechanism behind the development of type 2 diabetes. This knowledge will lead to new ways to control diabetes through development of novel therapies.
Novel Bioinformatics Methods For Prioritizing Disease-causing INDELs
Funder
National Health and Medical Research Council
Funding Amount
$351,664.00
Summary
This project will build a bioinformatics diagnostic tool for the detection of small insertions and deletions (INDELs) in the human genome, which are the second most abundant class of human genetic variations. INDELs are implicated in many human diseases. Thus, the assessment of INDELs is critical for understanding disease etiology, disease susceptibility, and for interpreting personal genome sequencing data. The goal is to improve disease diagnosis and prevention.
Genetic Analysis Of De Novo And Inherited Exome Variation In Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$1,351,522.00
Summary
Schizophrenia (SCZ) is a severe mental disorder affecting ~1% of the world’s population. The majority of risk is explained by genetic factors, and thus identifying susceptibility genes may lead to the development of novel therapeutics and personalised treatments. We will join forces with international collaborators to perform the largest DNA sequencing analysis of de novo and inherited protein-coding sequence variation in SCZ to date. We aim to identify key risk genes and genetic pathways.
Identification Of Genetic Variants Regulating Thyroid Function In Health And Disease By Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$316,433.00
Summary
Small differences in thyroid function are associated with important clinical outcomes including longevity and cardiovascular disease. We recently completed a Genome Wide Association Study and identified a novel locus associated with blood levels of Thyroid Stimulating Hormone. In this project we will extend that research to study rare genetic variants and examine their association with thyroid function in health and disease.
Melanoma is the 4th most common cancer diagnosed in Australia. Advanced melanoma frequently spreads to other organs and can acquire resistance to anti-melanoma treatments, making it fundamentally incurable. I am focused on investigating the mechanisms underlying melanoma disease progression. I will achieve this by comparing the biological nature of melanoma cells at different stages of disease and therapy-resistance to identify new targets for the more effective treatment of patients with melano ....Melanoma is the 4th most common cancer diagnosed in Australia. Advanced melanoma frequently spreads to other organs and can acquire resistance to anti-melanoma treatments, making it fundamentally incurable. I am focused on investigating the mechanisms underlying melanoma disease progression. I will achieve this by comparing the biological nature of melanoma cells at different stages of disease and therapy-resistance to identify new targets for the more effective treatment of patients with melanoma.Read moreRead less
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.
Applying Next Generation Sequencing To Family Studies
Funder
National Health and Medical Research Council
Funding Amount
$182,622.00
Summary
Recent advances in technology can determine the DNA composition of a person for much longer stretches of DNA, at a much cheaper cost. I use statistical analysis to identify regions of the human genome that harbour mutations that cause diseases such as epilepsy in families. These regions contain 5-15 million base pairs. We need to find the ONE base pair that causes disease. This application deals with the development of new tools to exploit new technology for the identification of mutations.