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.
The Molecular And Biological Roles Of Growth Inhibiting Chromatin Binding Proteins
Funder
National Health and Medical Research Council
Funding Amount
$814,843.00
Summary
Our previous work has led to the identification of mutations underlying human birth defects. Similarly, our proposed work will identify a new gene as potentially mutated in human heart defects. We will determine its overlapping functions with a related gene and elucidate their roles in embryonic development and cancer.
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.
Towards An Etiological Understanding Of The Comorbidity Of Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$997,883.00
Summary
Pyschiatric disorders are common disorders with both genetic and environmental etilogy. The disorders are characterised both by significant overlap of symptoms and by significant heterogenity of symptoms within disorders. The availability of genome-wide genotypes allows us, for the first time, to investigate co-morbidity directly at the molecular level. Understanding the nature of co-morbidity between disorders nay be an important key to effective treatment.
I work on mitochondrial diseases, which are inherited disorders of metabolism that block conversion of food energy into chemical energy needed by our cells. We focus on understanding (i) the genetic basis of these disorders using approaches such as massively parallel sequencing, systems biology and experimental studies, and (ii) the detailed mechanisms of disease by studying cell lines from patients and animal models. We aim to develop better methods for diagnosis, treatment and prevention.
Social media, weather forecasting and mineral exploration are driven by Big Data enabled by new technologies. Likewise, disease prevention, diagnosis and prediction is moving towards personalised and precision medicine, facilitated by novel genomics technologies. This Program of research will develop analysis methods and tools and apply them to clinical genomics data in neurological and psychiatric disorders, thereby paving the way for the translation of genomic tools to common diseases.
Preconception Carrier Screening: Providing Genetically At Risk Families With A Chance To Have Healthy Children
Funder
National Health and Medical Research Council
Funding Amount
$857,443.00
Summary
Current preconception carrier screening is not widely accessible and has no public funding. We will develop a model of the social and economic impacts of genetic disorders on families and government and the cost of a range of genomic technologies to determine the social and economic benefits that could be realised by the introduction of accessible and affordable preconception carrier screening using existing technologies: gene panels and advances in whole genome sequencing (WGS).
Editing Beneficial Single Nucleotide Polymorphisms Into The Genome: A New Approach To Genetic Disease
Funder
National Health and Medical Research Council
Funding Amount
$646,979.00
Summary
?-thalassaemia and sickle cell anaemia are red blood cell diseases caused by deficiencies in adult ?-globin, a component of oxygen-carrying haemoglobin. Interestingly there is a rare group of patients whose symptoms are reduced by naturally occurring mutations that upregulate another globin gene to compensate for defective ?-globin. We are investigating how these beneficial mutations elevate globin levels with a view to engineering them into cells of affected patients to treat these disorders.
Novel Gene Identification And Characterisation In Epilepsy.
Funder
National Health and Medical Research Council
Funding Amount
$303,964.00
Summary
Epilepsy is a serious neurological disorder affecting up to 5% of the population at some point in their lives. Approximately 70% cases of epilepsy are genetic, but very few of the genes involved have been identified. This project will use state-of-the-art techniques to identify genetic mutations causing an inherited form epilepsy affecting infants. This research is expected to reveal new gene families involved in the genesis of epilepsy and thus new targets for the development of treatments.